SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs189712807 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156209 | CAGCCTCCTGAGTAG[C/G]TGGGATTACAGGCAC | 4867 |
rs189845983 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138642 | ATGTTCATGAGCAAG[A/G]GGCAGAACGACCTGA | 4867 |
rs189872118 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180743 | CAAAGGAACCCCCAT[C/G]CCCAACCAAGAGAAG | 4867 |
rs189905743 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187679 | ATTGTATCCAGCATC[C/T]TCCCGATACCAAAAC | 4867 |
rs189975215 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125481 | TCATGCGTAACCCTC[C/T]TGGAATGTGTTTTTG | 4867 |
rs189982575 | snp | C/G | 9.93986e-05 | 0.00704907 | missense | NPHP1 | GRCh38.p7 | 2:110144540 | CCTTTTTCATAAGGA[C/G]TACCACCATTCAAGA | 4867 |
rs189987322 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145169 | CTAACACTCTACATG[C/G]TTTTCTTTTGAAGTC | 4867 |
rs190001524 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166493 | ACTTCCAAGAAACCT[C/T]CTTAAAAAGGCAGCA | 4867 |
rs190066536 | snp | C/G/T | 0.00319106 | 0.0398404 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194959 | ACAAAATTTAACAAC[C/G/T]CTTTATGCTAAAAAC | 4867 |
rs190137490 | snp | A/C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127630 | ATGTGCACAACTTTA[A/C/T]CCTCATGCTTTCAAG | 4867 |
rs190154044 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165610 | CAGATTTAGCTACAT[A/G]ATAAATAAACATGAC | 4867 |
rs190170265 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204158 | AGCCTAGGTGCATAC[A/G]CATATGTTACACCTT | 4867 |
rs190238806 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124697 | GCTGTCCACAGGCAG[A/C]AGAGTCTACACAGAG | 4867 |
rs190244668 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170094 | CATGAATATCCCATA[C/T]TTGGAGCTGGCAAAT | 4867 |
rs190417163 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154740 | TTAGGGTATCTGTTG[A/G]AAGAAATTTCTAAGT | 4867 |
rs190421483 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172245 | CTGTATTGATTTTTT[C/T]TCTCTCTCTCTTTTC | 4867 |
rs190433047 | snp | A/G | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192284 | GACGAATGGCTAACT[A/G]GAATAACCAATGCAG | 4867 |
rs190490613 | snp | A/C | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150492 | TTAAGTGAATTCCTT[A/C]ATATCTGAGATAGGT | 4867 |
rs190505270 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191073 | ACAACTCCAGTCTAC[A/G]GCTCCCAGAGTGAGT | 4867 |
rs190558545 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157614 | GATGCGGAAGTCAGA[C/G]ACTAGGTGTCATGCC | 4867 |
rs190560532 | snp | A/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135659 | TATAAACTCTGTCAT[A/T]AAGCATGAGGAAGGA | 4867 |
rs190572230 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176669 | TTTAGAGAAGACCTA[C/T]CTCAGCTTTGTCTTT | 4867 |
rs190579347 | snp | G/T | 0.0189856 | 0.0955633 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194422 | AAGAAATGGATAAAT[G/T]CCTCGACAAATACAC | 4867 |
rs190690106 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152696 | ATGACACCAGAAGCA[G/T]AACCATGTCAACAAG | 4867 |
rs190731225 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183602 | AATTCCTCTAGCGCC[A/G]CTGGGTTAGGGTCTC | 4867 |
rs190898344 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139416 | GAAACTGAAGCATCT[A/G]TTTGCTCTCTTTTTC | 4867 |
rs190983114 | snp | A/C | 0.0110787 | 0.0735976 | NPHP1 | 2 | allele_origin=A(germline)/C(germline) | 2:110204955 | AGAGGATCTCGCTGT[A/C]GTCTCGCCAGCATCT | 4867 |
rs190997163 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177718 | ACATACACTCTGGCA[A/G]ACAAACAATGCATGT | 4867 |
rs191044262 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145536 | CTCAGGTGATCCTCC[C/T]GCCAAGGCCTCCCAA | 4867 |
rs191050264 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168065 | ATTTTATGAAATAAG[A/G]AAATACAAGCTACAA | 4867 |
rs191061211 | snp | C/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188963 | AGAAAATTGAAACTA[C/G]AACCCCTTCCATACA | 4867 |
rs191069168 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135907 | ATGTGACCACTGTGA[A/T]GAGGTGACAGCAATG | 4867 |
rs191071573 | snp | A/G | 0.00199481 | 0.0315187 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206166 | TTGCTGGGTAAGTGG[A/G]CAGTTTCCAGCTTAG | 4867 |
rs191083170 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200516 | TGCAATGAGCCGAGA[C/T]TGCGCCACTGCACTC | 4867 |
rs191229991 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158057 | GAAATTTCCTTTTAA[C/T]CCTTTGATTATTTAG | 4867 |
rs191324084 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188765 | ACAAGGCTACAGTAA[C/T]TAAAACAGCATGGTA | 4867 |
rs191335739 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162357 | ACCCACATTACTCAA[A/G]GAAGGCATCTCTGGG | 4867 |
rs191467559 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140757 | ATTTTCCAAGGAAAG[C/G]CTGGCCAAAAAAGAG | 4867 |
rs191491744 | snp | A/G | 0.0174175 | 0.0916809 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141890 | AGGCAGGAAAATGGC[A/G]TGAACCCGGGAGGCG | 4867 |
rs191497335 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192853 | ATGGCGGCCAATATT[C/G]AACTTCTTAAAGAAA | 4867 |
rs191505433 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164971 | TCCATTTCAAGAAAG[C/T]ATTGAATTAGTTATA | 4867 |
rs191507519 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187065 | AATGCCCACATCAAA[A/G]AGCTAGAAAGATCTC | 4867 |
rs191617980 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126609 | GAAGAGGACCCTTAC[A/G]GAACCAGAGTGTTTT | 4867 |
rs191634005 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149052 | TAGTTACCAACAGTA[C/T]TTGCCCCACATGGCT | 4867 |
rs191638428 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168762 | AATGTGACATAGTTT[A/G]ATGAATCATTCCTTT | 4867 |
rs191641675 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190399 | GGCAGCTAAGGCCGG[A/G]TGAGAAATTGAGCAC | 4867 |
rs191790295 | snp | A/T | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172132 | TGTCAATTTTAGTAC[A/T]TTTTCTTTTTAAAGA | 4867 |
rs191858375 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130716 | GTCTTCTTTCCTTGG[A/G]TCTTCAGACATGCTG | 4867 |
rs191920725 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132066 | AATGTCAAATAAAAA[C/T]GGGAAGCCACTAATT | 4867 |
rs191940604 | snp | C/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206704 | ATAGCATCATGGATA[C/G]AGTTTAATTCTGTTG | 4867 |
rs192004582 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156967 | TTTTTAGTAGAGACG[C/T]GGTTTCATCATGTTG | 4867 |
rs192094216 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125779 | ACTTATGGACAGGGT[C/T]AAAAATGCTGTACAG | 4867 |
rs192094894 | snp | G/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192173 | AATGACTTTCATGAG[G/T]TGAGAGAAGAAGGCT | 4867 |
rs192158930 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138540 | TTTTAAAGACGGGAT[G/T]CAGGGGACCATTTCA | 4867 |
rs192165293 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159343 | CCTTGGAAGAATTTG[C/T]ATAAGATTGGTATTA | 4867 |
rs192165403 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179982 | GCTTCTCCAGCTCTA[C/T]AACTCCATAAACCTA | 4867 |
rs192175540 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196880 | GAAGCTGGAAACCAT[C/G]ATACTGAGCAAATTA | 4867 |
rs192176315 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153286 | ATCTGTCACCAGCAG[A/G]CCTACCCTAAAAGAA | 4867 |
rs192308538 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141694 | ACAGTTTGGTAGGGC[C/T]GGATGCGGTGGCTCA | 4867 |
rs192311696 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163845 | TTTCTATTTTTAGTC[A/G]AGGTGAGGTTTCGCT | 4867 |
rs192313739 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133104 | ACTCCTCAATCAAAA[G/T]ATACAGATTGGCAGG | 4867 |
rs192318662 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184009 | CATGAATGGCACTAG[C/T]GGCAGACCCAACTGG | 4867 |
rs192322452 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134728 | TAACAGAATTAAGGG[A/G]AAAAACCCACATTAT | 4867 |
rs192330993 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201177 | AGGATCTGGGCTACA[C/T]AGGCTAAGGATTTAG | 4867 |
rs192376770 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154898 | AGAAATTCAAGCCGG[A/C]TGCAGAAATTCGCAT | 4867 |
rs192462039 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176105 | CATCTTATCAATCTT[C/T]TCCTATAAATTATTT | 4867 |
rs192603111 | snp | A/C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169039 | CACCAGATATGTTTT[A/C/G]AATAACACTCACTCA | 4867 |
rs192608051 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190967 | TCATGCCAGTCAGAA[C/T]GGTGATTATTAAAAA | 4867 |
rs192670576 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136979 | ACCAAAACAGAGATA[C/T]AGACCTATGGAACAG | 4867 |
rs192672982 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180928 | ACATACAGTGACCCA[C/G]GAATTTTATATACTC | 4867 |
rs192675690 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132757 | TTCAACATCGAAGTT[A/G]AATTGGTATCAGTTT | 4867 |
rs192743808 | snp | A/C | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173175 | TGTTGGCCAGATGGT[A/C]TCTATCTCTTGACCT | 4867 |
rs192761188 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203263 | CTGCTGGAGTGGGGT[C/G]GGGGAGGGAAGAGGA | 4867 |
rs192761867 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202762 | GCTATTATTAAAAAA[C/T]CAAGAAATGACAGAT | 4867 |
rs192803787 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164401 | AAAATTTAACATCTG[C/T]TTCCACTCAAATGAT | 4867 |
rs192874515 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147501 | GTTCAGTAGTTTATA[C/T]GACATAAGTTAAACT | 4867 |
rs192894897 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197937 | CTTTATAACTATGTA[A/G]TTATTAAAATCCTCA | 4867 |
rs192932043 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189930 | TAGATACAGAGTGCC[A/G]ATTGGTGTGTTTACA | 4867 |
rs192963005 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185623 | AGCTGCTGCCTCCCC[C/T]TGCTGGTCACTCCGC | 4867 |
rs193002808 | snp | C/T | 0.00953873 | 0.0683987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141783 | CGAGACCATCCTGGC[C/T]AACATGGTGAAACCC | 4867 |
rs193023725 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173520 | ACAATGATGGCCCCA[C/T]ACATATAATACCATA | 4867 |
rs193077503 | snp | A/C | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126327 | TGTGCATGTCAGTAG[A/C]TATCCTCCTGTTGGC | 4867 |
rs193081678 | snp | C/T | 3.29679e-05 | 0.00405991 | missense | NPHP1 | GRCh38.p7 | 2:110168489 | AGACCTTCATTTCCT[C/T]TGGCATCCTTAGCTA | 4867 |
rs193125588 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195796 | GCATGGTACTGGTAC[A/C]AAAACAGAGATATAG | 4867 |
rs193149026 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158293 | TGAGGTGAAGTGTTA[C/T]GTGAATATCAATCTA | 4867 |
rs193151749 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127470 | AAAAATTAAGAAAAT[A/G]TAGATAAAATAATCC | 4867 |
rs193210601 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155051 | TTCATGGGCCAGGCC[A/G]AGGGTCCCCATGCTG | 4867 |
rs193215998 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193126 | TAACCAGCTAACATC[A/G]TAATGACAGGATCAA | 4867 |
rs193300311 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178262 | TCCATCTCTCATGGG[A/G]TCTAACACCTTCTAT | 4867 |
rs193301600 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110149815 | TGACAGTGTGTGGGT[A/G]TAATGTAGCAGTCCC | 4867 |
rs199503698 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158926 | TTCTTGTTGCATTTT[-/G]GCAATTTGAGGACTC | 4867 |
rs199507112 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139447 | TTATGTTGACAAGGT[C/T]GCCATGATCACAACC | 4867 |
rs199535400 | snp | A/G | 3.64206e-05 | 0.0042672 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129279 | AATGCAAAACAACAG[A/G]AAGAATTTTATGCAA | 4867 |
rs199593984 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176045 | CAGAATTTTCATTTT[-/G]GTCTTTATTAGTTCC | 4867 |
rs199652714 | snp | C/T | 0.0040821 | 0.0449932 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201383 | ATTGAAATGTAAGTG[C/T]GGTTCCTGTAAAGCT | 4867 |
rs199669720 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110164487 | TCTATTCTTTTTGTA[A/C]AAAAAAAAAAAAAAA | 4867 |
rs199714158 | snp | A/G | 0.00013247 | 0.00813741 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164497 | TTGTACAAAAAAAAA[A/G]AAAAACTAATGAGAA | 4867 |
rs199834024 | snp | C/G | 0.473174 | 0.112665 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194928 | ATTATCTCAATAGAT[C/G]CAGAAAAGGCCTTTG | 4867 |
rs199918083 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194086 | GACACCCTAATATCA[C/G]AATTAAAAGAACTGG | 4867 |
rs199941495 | snp | C/T | 5.03816e-05 | 0.00501879 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204880 | CCCGCCCCAGGGCCC[C/T]CTGCACAGCCTGACC | 4867 |
rs199998203 | snp | G/T | 0.000399281 | 0.0141238 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110164553 | AACCAGAAATATACG[G/T]CCTCTGCTCTGTACA | 4867 |
rs200093848 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129109 | CAAAAAAAAAGGCCT[A/T]GACAGAACTCATTAA | 4867 |
rs200118387 | in-del | -/A | 0.000642912 | 0.0179177 | NPHP1 | 2 | allele_origin=A(unknown)/(germline) | 2:110165157 | CTTCACTATAAGGCT[-/A]AAAAAACCATTGAAA | 4867 |
rs200127896 | in-del | -/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133183 | CGGTAGACTTAGGAC[-/T]ACTCATGGGTAGAAA | 4867 |
rs200133746 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186841 | CTGATAGACACATTT[-/A]AAAAAAAAGAAAGAA | 4867 |
rs200187798 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180045 | TACCTAAAGTTTACT[G/T]TGTGCCAACCATGTT | 4867 |
rs200193673 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193657 | CTGCACCAAGTGGAC[C/G]TAATAGACATCTACA | 4867 |
rs200201945 | snp | A/G | 0.00198876 | 0.031471 | missense | NPHP1 | GRCh38.p7 | 2:110163071 | AGAAGCTGTGAGAGC[A/G]TGGAAGGCCTGAACC | 4867 |
rs200259671 | snp | C/T | 0.00124316 | 0.0249005 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125208 | TAAAGCAAGTTCGGA[C/T]TGGTAATTACCATGA | 4867 |
rs200383376 | snp | C/T | 0.000461802 | 0.0151884 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170027 | TTCTGAGTAGGACTA[C/T]TTGAAATAATATACA | 4867 |
rs200386809 | snp | C/T | 5.27867e-05 | 0.00513717 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163001 | AATTAGACGTGGATC[C/T]TGACTGCTTTGCTGA | 4867 |
rs200393791 | snp | C/T | 0.00040034 | 0.0141425 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168575 | GCAAAACAAAGTAAA[C/T]CATTTTAAATAAAAT | 4867 |
rs200396055 | snp | A/C/G | 1.64879e-05 | 0.00287118 | missense | NPHP1 | GRCh38.p7 | 2:110146793 | CATCAAAAAGTTTAA[A/C/G]AAACACCCAGCCACA | 4867 |
rs200480007 | snp | C/T | 1.66955e-05 | 0.0028892 | missense | NPHP1 | GRCh38.p7 | 2:110204919 | TGCTTCAGCTCCTGA[C/T]TGCGGCGCCGCAGGG | 4867 |
rs200493180 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184376 | CTCAGAGGAGCATCT[C/T]GTGCTCCTCACTGAG | 4867 |
rs200505017 | in-del | -/T | 0.0158469 | 0.0875917 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181212 | GCCATTCTAGCCTGC[-/T]GGCTTTGGAGAATAC | 4867 |
rs200521790 | snp | C/G | 0.000230152 | 0.0107249 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110129201 | CCTGAGAGCATCCAT[C/G]ACATCAGGCTGCTCC | 4867 |
rs200526589 | snp | C/G/T | 0.000134318 | 0.00819397 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143669 | ATCAAAAGTAACTCA[C/G/T]GAAACTTTAAGTACT | 4867 |
rs200607861 | in-del | -/AT | 0.457737 | 0.139088 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194910 | AACGACAAAAACCAC[-/AT]GATTATCTCAATAGA | 4867 |
rs200615085 | snp | A/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163185 | AGTCATGTTTCTGCA[A/T]CTCTATAATACTTTA | 4867 |
rs200621786 | in-del | -/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194940 | GATGCAGAAAAGGCC[-/T]TTGACAAAATTTAAC | 4867 |
rs200631256 | snp | A/G | 9.8837e-05 | 0.00702914 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123893 | CAGAGCTTGGAGGGC[A/G]CCCTGGTTTTCTTGG | 4867 |
rs200726174 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139208 | TATAGCAAATTTACA[C/T]ACACACACACACACA | 4867 |
rs200731694 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191674 | GTGGTTCTCCCAGCA[C/T]GCAGCTTGACATCTG | 4867 |
rs200732975 | snp | G/T | 0.000746231 | 0.0193018 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204853 | AGTGCGCGCAGCTGC[G/T]TCCGCCTGTCGCCCG | 4867 |
rs200851994 | snp | C/G | 1.64863e-05 | 0.00287104 | missense | NPHP1 | GRCh38.p7 | 2:110146787 | CACTGGCATCAAAAA[C/G]TTTAAGAAACACCCA | 4867 |
rs200870948 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125063 | TCTGTGGCTGCTTTT[A/C]TGTTACAACACCAGA | 4867 |
rs200875949 | snp | A/C | 0.00199798 | 0.0315436 | splice-acceptor-variant | NPHP1 | GRCh38.p7 | 2:110168554 | GAGAATTTCCCCTTT[A/C]TTAAAGCAAAACAAA | 4867 |
rs200875980 | in-del | -/T | 0.0130921 | 0.0798413 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159429 | TTCTTTGTGGCAAGA[-/T]TTTTTTTTTAATTAT | 4867 |
rs200953488 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174844 | TTTGGTGATTTTGTT[A/C]TTTAAAATGGCTCCC | 4867 |
rs201001371 | in-del | -/TAAG | 0.0107246 | 0.0724382 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204051 | TCTGTGTATATTATA[-/TAAG]TAACAATGTGATGAA | 4867 |
rs201030203 | snp | G/T | 8.23649e-05 | 0.00641683 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125632 | TGTGGAGACTCATAT[G/T]TTACCTTCTCTGATC | 4867 |
rs201077898 | snp | C/T | 6.58924e-05 | 0.0057395 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123892 | GCAGAGCTTGGAGGG[C/T]GCCCTGGTTTTCTTG | 4867 |
rs201107818 | snp | C/T | 6.59065e-05 | 0.00574012 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110165129 | CTCTTCACTTGACTC[C/T]TGGCCTTCTTCTTCT | 4867 |
rs201150109 | snp | A/T | 1.64999e-05 | 0.00287222 | missense | NPHP1 | GRCh38.p7 | 2:110169818 | TACCTTAAATGTAAG[A/T]TCTCCAACTTGCTGA | 4867 |
rs201229820 | in-del | -/GGG | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128937 | ATCCTAAGTCAAGGA[-/GGG]AAAAATGGGCAAAGA | 4867 |
rs201234092 | snp | A/G | 0.00162097 | 0.0284229 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129154 | CTGCTTCCATAAGCC[A/G]GCAGGTTTCCATTGC | 4867 |
rs201370643 | snp | A/G | 0.000126774 | 0.00796058 | missense | NPHP1 | GRCh38.p7 | 2:110201478 | TTCAGTTGGCTCTCA[A/G]AAAGCAAACTATCAA | 4867 |
rs201437345 | snp | A/G | 0.00199792 | 0.0315431 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164653 | ACTATTAGGTAGCAA[A/G]ACGAGACATGATTAA | 4867 |
rs201460699 | snp | A/G | 0.000296501 | 0.0121722 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124038 | TAAACCAGGAGAAAC[A/G]TGGACTTCAGGAACT | 4867 |
rs201478764 | snp | A/C/G | 5.03726e-05 | 0.00501839 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163140 | GTGTTTATCTGCTGA[A/C/G]GACAGTAACATCAAA | 4867 |
rs201509370 | in-del | -/AAAG | 0.0170251 | 0.090679 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186846 | AGACACATTTAAAAA[-/AAAG]AAAGAAAGAAAGAAA | 4867 |
rs201533534 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139233 | CACACACACACACAC[A/G]CAACCTACTTCTCCA | 4867 |
rs201589963 | snp | C/T | 1.65282e-05 | 0.00287469 | missense | NPHP1 | GRCh38.p7 | 2:110143638 | TAGAAAACACTGCCG[C/T]GTGCTTTTAAGAAAA | 4867 |
rs201594003 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110136224 | CAATATCATAATGAA[A/T]GGACAAAAACTGGAA | 4867 |
rs201633685 | in-del | -/GT/GTC | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133182 | ACGGTAGACTTAGGA[-/GT/GTC]CACTCATGGGTAGAA | 4867 |
rs201661196 | snp | A/C/T | 3.29556e-05 | 0.00405918 | missense | NPHP1 | GRCh38.p7 | 2:110165068 | TTTGCTTAACTTCTG[A/C/T]TCCATCTGCTGTTTC | 4867 |
rs201738869 | in-del | -/AC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141978 | CTCTGTCTCAAAAAA[-/AC]AAAAAAAAAAAGAAA | 4867 |
rs201746637 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180448 | TTATGCCGTTTGAGT[C/T]TTTTTTTTTTTTTTT | 4867 |
rs201762465 | in-del | -/A | 0.465368 | 0.126951 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191918 | GAGTGGACCTCCGGC[-/A]AACTCCAACAGACCT | 4867 |
rs201776439 | snp | A/G/T | 0.000132224 | 0.00812993 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146729 | CAGAAGTATTCATTC[A/G/T]TTAGGAATATATAGC | 4867 |
rs201821449 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172382 | CTTTTATTTTTATTA[-/T]TTTCTTTCCTGCTCT | 4867 |
rs201825314 | in-del | -/AAC | 0.0123036 | 0.0774623 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181583 | GAAAAACAAACAGAA[-/AAC]AACAACAACAACATC | 4867 |
rs201834572 | in-del | -/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206239 | CTTCTGGCAAACACA[-/T]TAACACTGCTGAGTC | 4867 |
rs201852469 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130916 | TATTTCAAAAGGGTG[A/G]AGAGGATTATTCATG | 4867 |
rs201925878 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187910 | AACAGAACTTAAGAC[A/C]AAAAAAAATGACTAT | 4867 |
rs202003765 | snp | C/T | 0.00199792 | 0.0315431 | missense | NPHP1 | GRCh38.p7 | 2:110169862 | CAACAGCGATGTATT[C/T]TTCACCGGTTGACCA | 4867 |
rs202013979 | snp | A/C | 0.00498752 | 0.0496879 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160308 | TGATTTCTAACACAA[A/C]TCTGTCTTTTGTGAA | 4867 |
rs202050810 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175350 | CAATGTGGGATCATT[G/T]TCTGCTAGCCTGAAG | 4867 |
rs202096821 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197107 | ACACAAGGAGGGTAA[A/C]AACATACACTGGGGC | 4867 |
rs202147587 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180039 | TAATAGTACCTAAAG[G/T]TTACTGTGTGCCAAC | 4867 |
rs202159545 | snp | C/T | 6.60012e-05 | 0.00574423 | missense | NPHP1 | GRCh38.p7 | 2:110146828 | AACTCTCCTCTTTCA[C/T]CAGTTGACTAGGAAA | 4867 |
rs202167187 | snp | A/G | 0.00199798 | 0.0315436 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129262 | TGGCTAATTAAATCT[A/G]AAATGCAAAACAACA | 4867 |
rs202204509 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110136183 | TATCTCAAAATAATA[A/C]GAGCTATCTATGACA | 4867 |
rs202228210 | snp | A/G | 5.01299e-05 | 0.00500624 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168577 | AAAACAAAGTAAACC[A/G]TTTTAAATAAAATTC | 4867 |
rs202235113 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190378 | CCGAGCCCTGCCCCG[C/T]GGGAAGGCAGCTAAG | 4867 |
rs367547828 | in-del | -/AAAG | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199653 | ATCTCCCATACAAAC[-/AAAG]AAACAGAAACTATTA | 4867 |
rs367600757 | snp | A/G/T | 6.59038e-05 | 0.00574007 | synonymous-codon, stop-gained, intron-variant | NPHP1 | GRCh38.p7 | 2:110164630 | TCTCCATCCTATTTC[A/G/T]CATCAGAACTATTAG | 4867 |
rs367611934 | snp | A/G | 3.69645e-05 | 0.00429894 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129289 | AACAGAAAGAATTTT[A/G]TGCAAACTTCACTCA | 4867 |
rs367645863 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194350 | ATCCCACAGAAATAC[A/C]AACTACCATCAGAGA | 4867 |
rs367654251 | in-del | -/ACAAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162029 | GAGACTTCAGAAAAA[-/ACAAA]GTCGTTAGTTTTACT | 4867 |
rs367658641 | snp | A/G | | | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110204921 | CTTCAGCTCCTGATT[A/G]CGGCGCCGCAGGGCC | 4867 |
rs367755406 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167663 | ATTACTGAACCCCTG[A/G]GGTGATGGTATGGGA | 4867 |
rs367886831 | in-del | -/TGACTGCTGG | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203245 | AGCAATGGACACTGG[-/TGACTGCTGG]AGTGGGGTGGGGGAG | 4867 |
rs367890210 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191485 | GCCATTGCCGAGGCT[C/T]GAGTAGGTAAACAAA | 4867 |
rs367894556 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173585 | TAGATACACAAATAC[A/C]CCATTGTGTTACAAT | 4867 |
rs367896134 | snp | C/T | | | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147790 | AATCACTGGCATTCT[C/T]ATTCCTCAAGGGATT | 4867 |
rs367914622 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163471 | TGTCTATTGGCAAAT[A/C]ACATGCACTGAAGAA | 4867 |
rs367944667 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150855 | CACCCAGCAAAAAAA[-/A]TGGTCTTTTAAAAGA | 4867 |
rs367999321 | snp | A/T | 1.77495e-05 | 0.002979 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161574 | AAATCTGGAAGAGTT[A/T]CACTTTTACTGATAG | 4867 |
rs368025611 | snp | C/T | 3.67823e-05 | 0.00428833 | missense | NPHP1 | GRCh38.p7 | 2:110201460 | TTGGGTTCTAGAGCT[C/T]CTTTCAGTTGGCTCT | 4867 |
rs368170559 | snp | C/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190218 | GCTGCCTGCCAGTCC[C/G]ACACCGTGCGCCCGC | 4867 |
rs368173886 | snp | A/G | | | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110168515 | AGCTATCCACCAACC[A/G]TCAGGTTTTTTTTCA | 4867 |
rs368177424 | snp | A/G | 4.96611e-05 | 0.00498278 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164752 | AGACAAAATAGCAAA[A/G]TGAGTCAGGTCAGGT | 4867 |
rs368193474 | in-del | -/AT | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154082 | TCCCACAATTCTCAC[-/AT]GTCATGGGAGAATCC | 4867 |
rs368288098 | snp | A/C | 0.00557542 | 0.0525036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137300 | CACCAAAAGCAATGG[A/C]AACCAAAGCCAAAAT | 4867 |
rs368404148 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149746 | TCTTTGTCCTCCCTA[A/C]GTCTATGCAATGCTG | 4867 |
rs368413841 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194146 | AGCAGAAGGCAAGAA[A/G]TAACTAAGATCAGAG | 4867 |
rs368423566 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155519 | CCCATGAAAGCAGCC[A/G]GGAGTGGGGTTATAC | 4867 |
rs368441884 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131198 | GTAAAAATTTCAAAC[A/G]TACAAAAAAGTTGCA | 4867 |
rs368447278 | in-del | -/TTCT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161378 | CTAGTATTATTTCCT[-/TTCT]AACAATGAGAGAAGA | 4867 |
rs368521494 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174687 | AGCAGCAAAAAATTT[C/G]AGTTGTCTGGCGTAC | 4867 |
rs368584055 | snp | C/G | 0.000153988 | 0.00877328 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165022 | AAATGTTTCCTAAAC[C/G]TACTTTGATATCCTT | 4867 |
rs368590150 | snp | A/G | 7.70327e-05 | 0.00620568 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129171 | CAGGTTTCCATTGCA[A/G]TGCATGCTACCCACC | 4867 |
rs368643055 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110192762 | CAGCCAGAGAGAAAG[C/G]TCGGGTTACCCACAA | 4867 |
rs368675694 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124958 | ATCAGGACTGGTAAA[A/G]TATGGACTGTGGGCC | 4867 |
rs368676601 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127011 | TACCTCACCAAGATC[C/T]ACTTCCTTTCTTCTG | 4867 |
rs368754855 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138105 | CGCATGTTCTCACTT[A/T]TAGGTGGGAATTGAA | 4867 |
rs368759173 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146994 | TAGAATCTCATTTTG[C/T]CTGCGGGTCAGATAT | 4867 |
rs368931513 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190516 | GAGCCCACGCCCACC[C/T]GGAACTCACGCTGGC | 4867 |
rs368972472 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162199 | TACAAAGATAAATCA[G/T]AGATATGTCCCCTGC | 4867 |
rs369034361 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135147 | TATACACTAACAATG[C/T]ACAATTTGAGAAGGA | 4867 |
rs369094440 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199412 | GTGAGACTCCATCTT[-/A]AAAAAAAAAAAACCA | 4867 |
rs369098778 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193008 | GCTCCTGAAGGAAGC[A/G]CTAAACATGGAAAGG | 4867 |
rs369101943 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141178 | CCCCTGATTTTACCA[A/G]CTACACATCTTCATT | 4867 |
rs369107646 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175654 | TTATCTTTGGTTTTC[A/G]GTAGTTTGAGGTACC | 4867 |
rs369312777 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150722 | GCCCAGCTAATTTTT[G/T]TATTTTTAGTAGAGA | 4867 |
rs369377781 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133484 | CCTACTTTCGATAAG[G/T]TATAGAACAATGAAA | 4867 |
rs369406624 | snp | A/C | 0.000335374 | 0.012945 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168584 | AGTAAACCATTTTAA[A/C]TAAAATTCAATAATC | 4867 |
rs369407207 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182874 | AAAGAGTCAAGATCC[A/G]TCGGTATGCTGTCTT | 4867 |
rs369485798 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164374 | GCTTTCAGGATTTTT[C/T]GAATAGTAAATAAAA | 4867 |
rs369490530 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154201 | AAAATGGGAGTTTTC[C/T]CTGCACAAGCGCTCT | 4867 |
rs369493274 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139858 | TGGTGTCATTACCCG[C/T]CTTGTTCTCCCACCT | 4867 |
rs369685710 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135132 | GTAAAAATCGTACTT[C/T]ATACACTAACAATGC | 4867 |
rs369707016 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177032 | CTCTGTCTCCTCAGT[C/T]GAGTAAGACTACTAT | 4867 |
rs369720205 | in-del | -/CA | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206953 | TTTTCAGCCCCACCA[-/CA]GTCCTAGGAGAATCA | 4867 |
rs369741384 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110195940 | TGGTGCTGGGAAAAC[C/T]GGCTAGCCATATGTA | 4867 |
rs369749854 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183292 | CTGGCCCACCCAGGG[C/T]GGAAAACTGCTTAAA | 4867 |
rs369755856 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169747 | ACAGGCAGAGTTTTC[C/T]TATTCTGTTAGGTAT | 4867 |
rs369756183 | snp | C/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157405 | GCAGAATGTATTATG[C/G]AAGTGAGGGAGGATT | 4867 |
rs369856527 | snp | C/T | 0.000153988 | 0.00877328 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110144530 | CACTTCAATACCTTT[C/T]TCATAAGGAGTACCA | 4867 |
rs369910775 | snp | A/G | 0.000157101 | 0.00886148 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201384 | TTGAAATGTAAGTGC[A/G]GTTCCTGTAAAGCTT | 4867 |
rs369955157 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146334 | ATCTTAAAGTTTAAA[A/T]CATTTACCGTGGTTG | 4867 |
rs369977541 | snp | G/T | 1.66335e-05 | 0.00288383 | stop-gained | NPHP1 | GRCh38.p7 | 2:110161675 | CTCTGGTTGTAAGAA[G/T]TAATTTGCTCGAAAT | 4867 |
rs370024434 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140214 | GCCAGCACTCAAGTC[C/T]CTCTGTGGAAGAGCA | 4867 |
rs370127800 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191348 | CACAGTCTTAGCAAA[C/T]GGCACACCAGGAGAT | 4867 |
rs370142615 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148595 | CAATGCCAATGATTA[A/C]AAATTTTAAAAATTT | 4867 |
rs370205671 | snp | A/C/G | 1.64768e-05 | 0.00287021 | splice-acceptor-variant | NPHP1 | GRCh38.p7 | 2:110125682 | TCCAGCCCACGAACT[A/C/G]TAAAGAGCAAACAGA | 4867 |
rs370355360 | snp | A/G | 3.29717e-05 | 0.00406015 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178494 | CTTGTCCAAAAGAGT[A/G]TGCTCCTCTTCTTTT | 4867 |
rs370383578 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135564 | GGAATGTATCATGCA[C/T]AAGATTTAACCTTTG | 4867 |
rs370573707 | snp | G/T | 0.000153988 | 0.00877328 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201502 | CTATCAACCTATGGA[G/T]ACCATTTAAAATATC | 4867 |
rs370660342 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199983 | TTATTAGGGGCCGGG[C/T]GCGGTGGCTCACGCC | 4867 |
rs370701067 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136620 | CCAACTTACAAGGGA[C/T]GTGAAGGACCTCTTC | 4867 |
rs370757936 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196428 | ATCACTGGCCATCAG[A/G]GAAATGCAAATCAAA | 4867 |
rs370759413 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172991 | TTGAGACGGTGTCTC[A/G]TTCTGTCACCAGGCT | 4867 |
rs370772084 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194129 | AAACACATTCAAAAG[A/C]TAGCAGAAGGCAAGA | 4867 |
rs370838885 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144923 | TTTCAAATGTGTTAA[-/A]TCATTATTTGAAATG | 4867 |
rs370872265 | snp | C/T | 7.5513e-05 | 0.00614417 | utr-variant-5-prime, upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205017 | GCCAGGGAAACCAAC[C/T]GGCGGCGCCAGAAGG | 4867 |
rs370906097 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130875 | CCCAGTGCATGTTCT[C/T]GTTGTGTATTTTCCT | 4867 |
rs370945279 | snp | C/T | 2.23516e-05 | 0.00334295 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131795 | TCTGGCAGTAGACTA[C/T]TAAAGAAGAAAAAAA | 4867 |
rs371098756 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173006 | ATTCTGTCACCAGGC[C/T]GGAGTGCAGTGGTAT | 4867 |
rs371112962 | snp | C/T | 8.46862e-05 | 0.00650661 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110161690 | GTAATTTGCTCGAAA[C/T]TGATTCCCTGAAAAA | 4867 |
rs371117197 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188573 | ATCATATCGTGAAAA[C/T]GGACATACTGCCCCA | 4867 |
rs371128484 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129421 | TCAAAGCTGTCCCTT[C/T]AACCTTCATTTGCCC | 4867 |
rs371141989 | snp | A/C | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137387 | TCAGAGTGAACAGGC[A/C]ACCTACAGAATGGGA | 4867 |
rs371172245 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179827 | TGACATATAAATGCT[C/T]TTCCACCTATTAGCT | 4867 |
rs371288413 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130087 | AAAAGGGTGAGACGA[A/T]TTCCCTTGTCAAGCC | 4867 |
rs371359847 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129574 | TCTTCCTTATGGCTG[G/T]GGCATGGTAAAAGGA | 4867 |
rs371364800 | snp | A/T | 1.65214e-05 | 0.0028741 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164506 | AAAAAAAAAAAACTA[A/T]TGAGAAATGTTACTT | 4867 |
rs371378987 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162636 | CTTTGGAAAAGTCTT[C/G]CTTGGAAGAAGATCA | 4867 |
rs371468903 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159877 | TTGATTTGCTAGCTT[A/G]GATCACTGACTTTAA | 4867 |
rs371486340 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110192935 | AAGGAGAAATAAAAT[A/C]CTTTACAGACAAGCA | 4867 |
rs371494580 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192854 | TGGCGGCCAATATTC[A/G]ACTTCTTAAAGAAAA | 4867 |
rs371575615 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127437 | TAAAATTATCATAAC[A/G]CAAATAATTCAATGT | 4867 |
rs371584609 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110164821 | AGTTGATAATCATCA[A/G]TAAGTTTTGAAAATC | 4867 |
rs371606709 | snp | C/T | 0.000153988 | 0.00877328 | missense | NPHP1 | GRCh38.p7 | 2:110160132 | GTAACCTTACCTTAT[C/T]ACCATCAAATAGACA | 4867 |
rs371620370 | in-del | -/AA | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145211 | TAGAAAGAAGAAGGT[-/AA]AAAAGAGCCCTTTAA | 4867 |
rs371648487 | snp | G/T | 4.97451e-05 | 0.00498699 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124094 | CCCCACAAATAACAT[G/T]GTTATTTTTAAAGTG | 4867 |
rs371696769 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163818 | GACATGCGCTACCAC[A/G]CCCAGCTAATTTTTC | 4867 |
rs371727704 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204256 | ATCACACCTTCCTCA[A/G]GACAGAGTGTTGTGA | 4867 |
rs371868598 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163918 | CACCCGCCTTGGCCT[A/C]CCAAAGTGCTGGGAT | 4867 |
rs371892494 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190222 | CCTGCCAGTCCCACA[C/T]CGTGCGCCCGCACTC | 4867 |
rs371895947 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169027 | ACCCACTTAATTCAC[C/T]AGATATGTTTTGAAT | 4867 |
rs371910839 | snp | G/T | 1.65573e-05 | 0.00287721 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164754 | ACAAAATAGCAAAGT[G/T]AGTCAGGTCAGGTTA | 4867 |
rs371952902 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126847 | GTATCACTTAGCAAA[C/T]GTAGACTTAGTGTCT | 4867 |
rs372002932 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186703 | GTGAAAGCGATGTAG[A/C]ACCCCACAGACTGCA | 4867 |
rs372074930 | snp | C/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200181 | AATCGCTTGAACCTG[C/G]GAGGTGGAGCTTGCA | 4867 |
rs372089008 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174740 | ATGGTGACACCTGCC[A/T]TTTTTTTTCAGCTCT | 4867 |
rs372133967 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147141 | GAGTGATCTCAAATC[A/G]TATCAGTACTACATG | 4867 |
rs372163236 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199812 | GCTCATGAGACATGA[A/G]TTTTCAAACTGAAAA | 4867 |
rs372229745 | snp | A/G | 1.76955e-05 | 0.00297447 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161576 | ATCTGGAAGAGTTAC[A/G]CTTTTACTGATAGTA | 4867 |
rs372306909 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182897 | GCTGTCTTCAAGAGA[C/T]CCACGTCATTTGCAA | 4867 |
rs372392877 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152284 | CATAGTGAAACCTTG[C/G]CTCTATTTTTTTTTT | 4867 |
rs372443602 | snp | C/T | 6.60295e-05 | 0.00574547 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123759 | GGATCCATCTGATTC[C/T]GTGGGAAGCTGAGGG | 4867 |
rs372448825 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193743 | CTATTCCAAAATTGA[C/G]CACATAGTTGGAAGT | 4867 |
rs372451620 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190650 | GCTCCCACAGGGCAG[C/T]GGCAGGCTGAAGGGC | 4867 |
rs372455363 | snp | C/T | 1.7047e-05 | 0.00291945 | missense | NPHP1 | GRCh38.p7 | 2:110161691 | TAATTTGCTCGAAAT[C/T]GATTCCCTGAAAAAA | 4867 |
rs372534331 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135165 | AATTTGAGAAGGAAA[A/C]CAACAAAACAATTTA | 4867 |
rs372552107 | snp | A/C/T | 8.23668e-05 | 0.00641696 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125590 | AATAGGCAAGCAAAC[A/C/T]CCAGGTACTGCAAAT | 4867 |
rs372637635 | snp | A/C | 8.2445e-05 | 0.00641995 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110168518 | TATCCACCAACCATC[A/C]GGTTTTTTTTCAATT | 4867 |
rs372638545 | snp | A/C | 1.64857e-05 | 0.00287099 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110146785 | TCCACTGGCATCAAA[A/C]AGTTTAAGAAACACC | 4867 |
rs372669470 | snp | C/G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133847 | GAAATGAAAACACAA[C/G/T]ATACCAAAATTTACA | 4867 |
rs372710514 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128544 | GGCCTTTATTAGGCT[C/G]TCTCATGCAGGACCT | 4867 |
rs372819726 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194271 | CTAGCAAGACTAATA[A/G]AGAAGAAAAGAGAGA | 4867 |
rs372855293 | snp | C/T | | | missense | NPHP1 | GRCh38.p7 | 2:110169853 | TAAAATCTCCAACAG[C/T]GATGTATTCTTCACC | 4867 |
rs372893275 | snp | C/T | 0.000153988 | 0.00877328 | missense | NPHP1 | GRCh38.p7 | 2:110129194 | TACCCACCCTGAGAG[C/T]ATCCATCACATCAGG | 4867 |
rs372911198 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193102 | AACTGCATCAACTAA[C/T]GAGCAAAATAACCAG | 4867 |
rs372912400 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156073 | TGGAGGCAGGTCTTT[C/T]TTTTTTTTTTTTTTT | 4867 |
rs372921155 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150799 | AGGTGATCTGCCTGC[C/T]TCGGCCTCCCAAAGT | 4867 |
rs372939935 | in-del | -/AAGCAATCCTC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142452 | GCTCAAGCAATCCTC[-/AAGCAATCCTC]CCACCTAAGCCTCCC | 4867 |
rs372962430 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140385 | TAATGAAACAAATGA[C/T]GCAGTCCTGAGGTAT | 4867 |
rs373015479 | snp | C/G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156923 | CTGGGACTACAGGCA[C/G/T]ACGCCACCACGTCCA | 4867 |
rs373188256 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196106 | TGGGCAAGGACGTCA[A/T]GTCTAAAACACCAAA | 4867 |
rs373206084 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158530 | TTAGGATTACTATGT[C/T]TTCTTGGTGAACGAT | 4867 |
rs373207580 | in-del | -/TA | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171984 | ATTGGCACTATTTCT[-/TA]TTCTTAAATGTTTAC | 4867 |
rs373222935 | snp | C/T | 0.000656922 | 0.0181116 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179579 | TAATAAAAATACTTG[C/T]ATAGGAAGAGATGTT | 4867 |
rs373275261 | snp | A/G | 1.68556e-05 | 0.00290302 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163041 | GTGGCTGATAGGCAC[A/G]CATTACCTTCCTCCA | 4867 |
rs373360762 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128199 | CCTTCTGTTTCTGCT[A/G]TCAGGTGCATATGGC | 4867 |
rs373381282 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191235 | GCCTCACCCGGGAAG[C/G]ACAAGGGACAAGGGA | 4867 |
rs373395291 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196026 | GATTAAAGACTTAAA[C/T]GTTGGACCTAAAACC | 4867 |
rs373396513 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176483 | TGATCATGTATTTTC[C/T]CCTGCTTTTTTGCAT | 4867 |
rs373460305 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190581 | GCGCCTCTCCCTCCA[C/T]ACCTCCTCGCAAGCT | 4867 |
rs373489331 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157916 | TAGATTTGAGAATTC[C/T]TTTCTAACATAAGCA | 4867 |
rs373607223 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204603 | GTTAGTGAGTTGTTA[G/T]GGTAGGAGGTTGAGA | 4867 |
rs373649859 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201165 | TGACCAGGTCACAGG[A/G]TCTGGGCTACATAGG | 4867 |
rs373661998 | snp | C/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123936 | AAGTCAGTGATAACT[C/T]TCCACCGTGCAGTCT | 4867 |
rs373749095 | snp | A/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148063 | AGTTATTGATAAAAA[A/T]AAAAAATGGGAAGGG | 4867 |
rs373754569 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193366 | GCAATCCTAGTCTCT[A/G]ATAAAACAGACTTTA | 4867 |
rs373772319 | snp | C/T | 3.30693e-05 | 0.00406615 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178551 | AGATTCATCAGCCTA[C/T]GAGAGAATATAGGTC | 4867 |
rs373784166 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176999 | CTCTCAGTGAACTGA[A/G]CAGCTCCAAAGTGTG | 4867 |
rs373837900 | snp | C/T | 1.68247e-05 | 0.00290035 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178373 | AAACATTAAAGCTAT[C/T]GGTGATATATCTTTA | 4867 |
rs373848546 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173300 | TTCCAAGTCATCAAA[G/T]AAAATATATATATAT | 4867 |
rs373875908 | snp | A/C | 1.64781e-05 | 0.00287033 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125688 | CCACGAACTCTAAAG[A/C]GCAAACAGAAATATT | 4867 |
rs373915635 | snp | A/G/T | 0.000617474 | 0.0175601 | missense | NPHP1 | GRCh38.p7 | 2:110204926 | GCTCCTGATTGCGGC[A/G/T]CCGCAGGGCCTGGAG | 4867 |
rs373943913 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189867 | GGTGCATTCACAAAC[C/T]CTGAGTTAGACACAG | 4867 |
rs373944594 | snp | A/G | 2.37172e-05 | 0.00344355 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161747 | AGAAAGAAACTCCAA[A/G]TCAAAAATCCATAAT | 4867 |
rs373951297 | snp | C/T | 0.000197814 | 0.00994324 | missense | NPHP1 | GRCh38.p7 | 2:110168477 | GTTCTGGGAACAAGA[C/T]CTTCATTTCCTTTGG | 4867 |
rs373953762 | snp | C/T | 3.29652e-05 | 0.00405974 | missense | NPHP1 | GRCh38.p7 | 2:110143609 | GAGGCTGCCTTCTCA[C/T]TGTCATAATCTGGTA | 4867 |
rs374090144 | snp | A/C | 3.30469e-05 | 0.00406477 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169795 | TTAGGTTTCAGTCTT[A/C]TTCTACCTACCTTAA | 4867 |
rs374102870 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143097 | GACTACAAAGGGGCA[C/T]GAGATAACTTTTTAG | 4867 |
rs374135559 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125419 | TAAAACTCAGTAATC[C/T]GAAATGGCTGTCTTG | 4867 |
rs374195726 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196717 | CACATATGTTTATTG[C/T]GGCACTATTCACAAT | 4867 |
rs374209997 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189390 | AGCTGCAGACCTTCA[C/T]GGTGAGTGTTACAGC | 4867 |
rs374215601 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183040 | TAAGCCAATAAAGAT[-/A]AAAAAAAAGACAAAG | 4867 |
rs374217774 | in-del | C/GTCT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133183 | ACGGTAGACTTAGGA[C/GTCT]ACTCATGGGTAGAAA | 4867 |
rs374266901 | in-del | -/AAGT | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133041 | GTAATAAAATGGCAA[-/AAGT]AAGTCCTTCTCTATT | 4867 |
rs374307031 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173217 | CGCCTCAGCACAGGC[A/G]TGAGCCACCGCACCT | 4867 |
rs374324688 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110147204 | AATGCAGATATTAAT[C/T]ATTCAAGGGCTTTTC | 4867 |
rs374379957 | snp | A/G | 0.00225024 | 0.0334673 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163043 | GGCTGATAGGCACGC[A/G]TTACCTTCCTCCAGA | 4867 |
rs374427156 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172992 | TGAGACGGTGTCTCA[C/T]TCTGTCACCAGGCTG | 4867 |
rs374429375 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124257 | AGAGTTACACAGAGT[A/G]CAGTGGAGCAGTTCT | 4867 |
rs374533814 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150401 | ACTTCATGTAATTCT[A/G]TAATGTTTTTCTTTT | 4867 |
rs374563008 | snp | A/G | 0.000153988 | 0.00877328 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164749 | GGGAGACAAAATAGC[A/G]AAGTGAGTCAGGTCA | 4867 |
rs374605559 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146557 | ATACCTCTTCTCTAG[G/T]AGTCATTTCTTCCTC | 4867 |
rs374634836 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179503 | AAGCCAGCACTGGCT[C/G]CAGTTAGACTATATC | 4867 |
rs374695490 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200368 | CAGGAGTTCGAAACC[A/T]GCCTGGCCAACGTGA | 4867 |
rs374704098 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130072 | CACGTGGCTGAAGGC[A/G]AAAGGGTGAGACGAA | 4867 |
rs374714742 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194311 | TAGATGCAATAAAAA[A/T]TGATAAAGGGGATAT | 4867 |
rs374815358 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170053 | ATACAAGAACAGACC[A/G]GCTATGAGTGTAACT | 4867 |
rs374897134 | snp | C/T | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125268 | ATTGTTTTCAATATA[C/T]GGTACAGCTCAGGCC | 4867 |
rs375028290 | snp | G/T | 1.68459e-05 | 0.00290219 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143676 | GTAACTCACGAAACT[G/T]TAAGTACTTGAGACA | 4867 |
rs375033545 | snp | A/G | 7.18043e-05 | 0.00599141 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161553 | TGTCTAATTGCAACT[A/G]TGACAAAATCTGGAA | 4867 |
rs375090180 | snp | A/G | 0.00517822 | 0.0506191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186144 | GCAGGACCATTTGAA[A/G]TTGGTAGCTATACTC | 4867 |
rs375099303 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139856 | ATTGGTGTCATTACC[C/T]GTCTTGTTCTCCCAC | 4867 |
rs375169704 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110195906 | CAAGAAATGGGGAAA[G/T]GATTCCCTATTTAAT | 4867 |
rs375177059 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157138 | TTACATAAACAGCAC[A/G]AGTATCTGTGCAGCT | 4867 |
rs375182494 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151168 | AAGATTCAGTCTCAA[A/G]AAAAAAAAAAAAAAA | 4867 |
rs375205567 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133966 | AACTTTATGCCCTAA[C/G]GAACTAGAAGAACAA | 4867 |
rs375223752 | snp | A/C | 4.96824e-05 | 0.00498385 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164758 | AATAGCAAAGTGAGT[A/C]AGGTCAGGTTATGCC | 4867 |
rs375238445 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156025 | CAATTCTCACATGTC[A/G]TGGGAGGAAACCAGT | 4867 |
rs375259130 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156194 | GCAATTCTCCTGCCT[A/C]AGCCTCCTGAGTAGC | 4867 |
rs375317119 | snp | C/G | 3.33222e-05 | 0.00408167 | missense | NPHP1 | GRCh38.p7 | 2:110161616 | ACAGTGCCTTCTGTA[C/G]CATCCCACATCAGAT | 4867 |
rs375361881 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167024 | TTTTAAATATTGATA[C/T]GTCAAAATAGTATTT | 4867 |
rs375386218 | snp | C/T | 0.000153988 | 0.00877328 | missense | NPHP1 | GRCh38.p7 | 2:110161654 | GGCCAGTTGTGAAGG[C/T]ATGAGCTCTGGTTGT | 4867 |
rs375389135 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110137665 | GTCATCATTAAAAAG[G/T]CAGGAAACAACAGGT | 4867 |
rs375438219 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173010 | TGTCACCAGGCTGGA[C/G]TGCAGTGGTATGATC | 4867 |
rs375464141 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161374 | AAACCTAGTATTATT[G/T]CCTTTCTAACAATGA | 4867 |
rs375559163 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190228 | AGTCCCACACCGTGC[A/G]CCCGCACTCCTCAGC | 4867 |
rs375559459 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184308 | GTCAAGGACTGGAAC[A/G]ACATGGAACACATCT | 4867 |
rs375699764 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179874 | CCAAGCTGTAAAACA[C/T]ATAGACATGATAACC | 4867 |
rs375736756 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193793 | GTAAAAGAACAGAAA[G/T]TATAACAAACTGTCT | 4867 |
rs375743029 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178213 | AACTAAATTATAAAT[C/T]GCCTGAGGGCAGAGA | 4867 |
rs375788803 | snp | C/T | 1.64738e-05 | 0.00286995 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125592 | TAGGCAAGCAAACAC[C/T]AGGTACTGCAAATAT | 4867 |
rs375816165 | snp | A/C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183956 | TTATAACAAACAGAC[A/C/G]AAAATGCAATCAAAT | 4867 |
rs375826062 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155302 | ATAAGTTTGCTGCAG[C/G]GGCGGGGCTCTCATG | 4867 |
rs375847336 | snp | A/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192698 | GCAACTCCAAGACAC[A/T]TAATTGTCAGATTCA | 4867 |
rs375907280 | snp | A/C/G | 0.000215281 | 0.0103731 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110148020 | AACATGGTAAGATGC[A/C/G]AGTAACCTGAAATGA | 4867 |
rs375918905 | snp | C/T | 0.000153988 | 0.00877328 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165194 | GTGCTTTTTAACTAA[C/T]GCAAAAAACAACCAA | 4867 |
rs376029092 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197152 | TATTAGAGGAGGGAG[A/G]GCATCAGGAAGAATA | 4867 |
rs376136362 | in-del | -/CT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161542 | ACATGTTGTTTGTCT[-/CT]AATTGCAACTATGAC | 4867 |
rs376184894 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172999 | GTGTCTCATTCTGTC[A/C]CCAGGCTGGAGTGCA | 4867 |
rs376245310 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193207 | ATTAAAAGACACAGA[C/T]TGGAAAATTGGATAA | 4867 |
rs376255178 | snp | C/G | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187374 | CAAACAATCAGCAGA[C/G]AATACTATAAACACC | 4867 |
rs376273877 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138240 | GATGAGTTAATGGGT[A/G]CAGCACACCAACATG | 4867 |
rs376372725 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132232 | GACCTGGAATAAGTC[C/T]TGACTTTGTCACTTC | 4867 |
rs376375217 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196134 | AAAAGCAATGGCAAC[A/C]AAAGCCAAAATTGAC | 4867 |
rs376416459 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177536 | ATTGGAGTCTTTCAA[A/C]ATGTAGATTTCCAGA | 4867 |
rs376420913 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152093 | TTCTGTGCAAAACCA[A/G]ACCCAAAGAATGAAG | 4867 |
rs376430385 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146383 | CCCACCTACAGAGGA[A/G]GGGTAGAGACTCACA | 4867 |
rs376436841 | snp | G/T | 3.37467e-05 | 0.00410758 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144578 | ATAAGTTCTATAAAA[G/T]AATAACATACAATGA | 4867 |
rs376492641 | snp | C/T | 1.65121e-05 | 0.00287329 | splice-acceptor-variant | NPHP1 | GRCh38.p7 | 2:110146836 | TCTTTCACCAGTTGA[C/T]TAGGAAATAAGACAA | 4867 |
rs376503018 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196030 | AAAGACTTAAATGTT[A/G]GACCTAAAACCATAA | 4867 |
rs376508007 | snp | G/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169372 | AAAATCACAACTTTA[G/T]TGTTCTGTCCCACCT | 4867 |
rs376580930 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110192951 | CTTTACAGACAAGCA[A/G]ATGCTGAGAGATTTT | 4867 |
rs376587077 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175619 | CCTTTTTTCCCTTGG[C/T]AGCTTTTAAGATCTC | 4867 |
rs376670510 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174865 | AATGGCTCCCAAACA[C/T]AGCGCTGAAGAGCCA | 4867 |
rs376683260 | in-del | -/A/AA/AAA/AAAA | 0.556337 | 0.111638 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164487 | CTATTCTTTTTGTAC[-/A/AA/AAA/AAAA]AAAAAAAAAAAAAAA | 4867 |
rs376722915 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140052 | ACTACAGCCCCCAGC[A/C]CTGCTGCAAGGCCCA | 4867 |
rs376737714 | snp | C/G | 5.08651e-05 | 0.00504281 | missense | NPHP1 | GRCh38.p7 | 2:110131743 | TTGTCGATAAAATAT[C/G]AACAAGTGAATAGAA | 4867 |
rs376818694 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190365 | CGGGCTGAAGGTCCC[A/G]AGCCCTGCCCCGCGG | 4867 |
rs376898832 | snp | A/G | 6.59489e-05 | 0.00574196 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123790 | CTAGAGGCTGCCACT[A/G]TCACACTGCATTCTT | 4867 |
rs376903829 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184278 | TCAATCTGCTATCTC[A/G]CGGAGCATGGCATTG | 4867 |
rs376908636 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135181 | CAACAAAACAATTTA[A/C]AATAGCATCAAAAAA | 4867 |
rs376934308 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193525 | GTCCTTAGAGACCTA[C/G]AAAGAGACTTAGACT | 4867 |
rs376974221 | snp | C/T | 1.64939e-05 | 0.0028717 | splice-donor-variant, intron-variant | NPHP1 | GRCh38.p7 | 2:110178422 | TAGAAAGGAAGCATA[C/T]TCAGTTATATTTTCT | 4867 |
rs376985400 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165483 | ATAAAAAAGAAAAGA[C/T]GTAAAGATAAAAATA | 4867 |
rs377203492 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150338 | CCAAAGAGTTAACAG[A/T]GGCTACACTAAGTGA | 4867 |
rs377235825 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185809 | AGGGAACAGGACCAC[A/C]CCAGCCACTGGAGGA | 4867 |
rs377431367 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188644 | TTGACATTCTTCACA[A/G]AATTAGAAAAAGCTA | 4867 |
rs377494529 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189853 | ATAGAGTGTCGATGG[-/G]TGCATTCACAAACCC | 4867 |
rs377538248 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191324 | CCCACCCTAATACTG[C/T]GCTTTTCCCACAGTC | 4867 |
rs377553848 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158038 | ATATTTTCTAATTTC[C/T]CATGAAATTTCCTTT | 4867 |
rs377658648 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196866 | GAAGGGACATGGATG[A/G]AGCTGGAAACCATCA | 4867 |
rs377676279 | snp | C/T | 8.24559e-05 | 0.00642037 | missense | NPHP1 | GRCh38.p7 | 2:110169835 | CTCCAACTTGCTGAG[C/T]AGTAAAATCTCCAAC | 4867 |
rs377725934 | snp | G/T | 0.000246271 | 0.0110939 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163181 | TTTCAGTCATGTTTC[G/T]GCATCTCTATAATAC | 4867 |
rs386649149 | multinucleotide-polymorphism | CT/TC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172386 | TTATTTTTATTATTT[CT/TC]TTCCTGCTCTCCTTG | 4867 |
rs397703327 | in-del | -/AG/CT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198803 | AGGAAGGACCCCTCT[-/AG/CT]ATCTAACAGTAGAAA | 4867 |
rs397755588 | in-del | -/A | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156088 | TGAGACTCTTGTCTC[-/A]AAAAAAAAAAAAAAA | 4867 |
rs397758432 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133780 | ACATACTTAAACAAC[-/C]AATGGCTCAAAGAAG | 4867 |
rs397776326 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160463 | TACATTTGAAATATT[-/T]GCATTTTTCTTAAAT | 4867 |
rs397817315 | in-del | -/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151188 | TGTATGGGTCACATC[-/T]TTTTTTTTTTTTTTT | 4867 |
rs397868566 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152300 | CTTGTACATTCTTAG[-/A]AAAAAAAAAAATAGA | 4867 |
rs397868746 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172389 | CCCAAGGAGAGCAGG[-/A]AAGAAATAATAAAAA | 4867 |
rs397868833 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179164 | ACAATCCCTTCAGGA[-/T]TTTTTTTTTTTTTTT | 4867 |
rs397869409 | in-del | -/GTGT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139229 | GGAGAAGTAGGTTGC[-/GTGT]GTGTGTGTGTGTGTG | 4867 |
rs397869831 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168417 | TTCCTTTTCTAAGAC[-/T]TTTTTTTTTTTTCGC | 4867 |
rs397934223 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141989 | AAAAAAAAAAAAAAA[-/A]GAAAGAAAAAGAAAA | 4867 |
rs397943872 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199424 | TTAAAAAAAAAAAAA[-/A]CCAATATGACTGCTG | 4867 |
rs398080502 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176043 | TCCAGAATTTTCATT[-/T]TGGTCTTTATTAGTT | 4867 |
rs398123285 | in-del | -/C | | | frameshift-variant | NPHP1 | GRCh38.p7 | 2:110160193 | CTGTAAAATGATTCC[-/C]TCTTCCAGGAATGAG | 4867 |
rs398123286 | snp | C/G/T | 1.68352e-05 | 0.00290126 | NPHP1 | 2 | allele_origin=T(germline)/C(germline) | 2:110131734 | CTTGTTGATATTTTA[C/G/T]CGACAAATTCTTGGA | 4867 |
rs527237798 | snp | A/C | 0.00557542 | 0.0525036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189189 | TTTGCACAGCAAAAG[A/C]AACTATTGTGTCCAG | 4867 |
rs527240105 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156975 | AGAGACGCGGTTTCA[G/T]CATGTTGGCCAGGAT | 4867 |
rs527345834 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181519 | CAATTAGGGTCTGGG[A/G]TACAGCAAACCACAG | 4867 |
rs527367490 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184630 | GCTGGAACATCTCTC[A/G]CTTCCTGCACCTCTA | 4867 |
rs527404570 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148128 | ATTTCATGTTGAATT[A/G]TAATCCCAATGTTGA | 4867 |
rs527430916 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201305 | TCTACATTCAACTTA[C/T]AACACTATGTGATTC | 4867 |
rs527639344 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139262 | CAGATCAGGGTTTCT[C/T]GATATTTAGAACTCA | 4867 |
rs527707250 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192099 | CTAAAAATCAGAGCG[C/T]CTCTCCTCCTTCAAA | 4867 |
rs527707391 | snp | C/G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200046 | GGGGCATGAGGTCAG[C/G/T]AGATTGAGACCATCC | 4867 |
rs527733038 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147593 | AGTATACTCTGCCCC[C/T]GGAAGACAGAGGTGA | 4867 |
rs527780370 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186846 | TAGACACATTTAAAA[A/G]AAAGAAAGAAAGAAA | 4867 |
rs527934972 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169541 | TGAATTTATACATGA[C/T]ATTCAATAACAAATT | 4867 |
rs527962030 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173199 | TTGACCTCGTGATTC[A/G]CCCGCCTCAGCACAG | 4867 |
rs528064544 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135975 | AAAGCTTATCCACCA[C/T]GATCAAGTGGGCTTC | 4867 |
rs528103040 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143950 | GGCAGGACTGGCGTT[A/G]TGGGGTCAGCAGAGG | 4867 |
rs528116109 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190201 | CCAGGGCTGCAGGTG[A/G]AGCTGCCTGCCAGTC | 4867 |
rs528184957 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184210 | TCATGGCAGGAGCCC[C/T]TGAAGGTGACATCTT | 4867 |
rs528190208 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136786 | GCCATCCCCATCAAG[C/T]TACCAATGACTTTCT | 4867 |
rs528230848 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190508 | AGTCCACGGAGCCCA[C/T]GCCCACCCGGAACTC | 4867 |
rs528318156 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191190 | GTGGGTGCAGCACAC[C/T]GAGCATGAGCTGAAG | 4867 |
rs528323884 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150903 | GAGCACAGTGGCTCA[A/C/T]GACTGTAATCCCAGC | 4867 |
rs528329169 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166534 | TTTGAATTCTTTCCC[C/T]TTTTGCTCCTTGGAA | 4867 |
rs528334291 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195754 | CCTAACTTCAAACTG[C/T]ACTACAAGGCTACAG | 4867 |
rs528481592 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182795 | CTCACACAAAACAAT[A/G]CTAACCTTAAATGTA | 4867 |
rs528493557 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126709 | GTAAACTCTAGGAGG[C/G]TCACATGCTGTACAT | 4867 |
rs528533150 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125955 | GCGAAACACTAACAC[A/C]TCCATGAAAACTATA | 4867 |
rs528533259 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134840 | ACTACTGCAACATAA[C/T]AAAGGCCATATATGA | 4867 |
rs528567540 | in-del | -/C | 0.00119737 | 0.0244387 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205901 | TCTAGTCCTTGCCTA[-/C]CCCCCAACCTCTCAA | 4867 |
rs528574238 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189337 | GTTTGGAGTTTCTTC[A/C]TTCTGGTGGGTTCGT | 4867 |
rs528577762 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165944 | GTATCAATAAAGAAA[A/C]CCGAAAGTGCCATTC | 4867 |
rs528591861 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204276 | GAGTGTTGTGATTTT[C/T]AACATTTTTGTGATA | 4867 |
rs528639004 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141866 | TAGTCCCAGCTACTC[C/G]GTAGGCTGAGGCAGG | 4867 |
rs528727127 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150316 | GAAATGTCACCATTT[C/T]CATGTCCCAAAGAGT | 4867 |
rs528738792 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126357 | CACCTGATATCATGA[A/G]TAACCTGAAAGCATC | 4867 |
rs528756194 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189340 | TGGAGTTTCTTCCTT[C/T]TGGTGGGTTCGTGGT | 4867 |
rs528793142 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188777 | TAACTAAAACAGCAT[A/G]GTACTGGTAAAAGAA | 4867 |
rs528815788 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194604 | CTGGTACCATTCCTT[C/T]TGAAACTATTCCAAT | 4867 |
rs528818577 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134152 | AACTAAAATCAGAAA[C/T]GAAAGAGGGGATATT | 4867 |
rs528860372 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178671 | TGTGACATTACACCT[A/C]TCTTAGGGAAATAAA | 4867 |
rs528870255 | snp | G/T | 0.000798403 | 0.0199641 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122866 | GCAGAACATCTTAGG[G/T]TGTAGAAAATTATAC | 4867 |
rs528965373 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132545 | CTGTAATCCCAGCTA[C/G]TCAGAGGCCAAGGCA | 4867 |
rs529141309 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178098 | ATGCAAGTAGACATT[C/T]CAAATCATTTCCCTT | 4867 |
rs529187263 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185295 | GTGCATGTGTGTATA[A/C]AAGTGTGTGAGCACA | 4867 |
rs529207780 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150674 | CCTGCCTCAGCCTCC[C/G]AAGTAGCTGAGATTA | 4867 |
rs529290116 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205828 | AAACCCTCCACCCCA[C/T]AACAGCACCCAGATT | 4867 |
rs529291059 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161301 | CTTTATGTTGGAAGC[A/G]TTACTATTACTCCAT | 4867 |
rs529381596 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145643 | AGTATTCAAAATATT[C/G]TGCAACTTTTTCCAT | 4867 |
rs529415243 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197398 | ACTGGGGCTGACCCT[A/C]CTAGCAACCTCCCCA | 4867 |
rs529431504 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167563 | CAATACCTCACTCTA[C/T]GGCTGTTCCTGAGTT | 4867 |
rs529445890 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129518 | CTCTGAACAGAATAA[A/G]ACTAGAAAATTTTGT | 4867 |
rs529462380 | snp | A/G | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167762 | GTGAGCAGCAATCTT[A/G]TGGGACTGAGCCTTT | 4867 |
rs529486147 | in-del | -/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138691 | TGTTCTGCCCTTTGG[-/T]CCACGGTCCCATTGC | 4867 |
rs529518836 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184679 | TGATTTCCACTCATC[A/G]TTTGAGATTTCCACT | 4867 |
rs529569791 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168221 | TTAATCCACAAAGCA[G/T]CCCCTCATTGTGAGA | 4867 |
rs529597900 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150450 | AATGAATTCAGAGTT[A/G]GACTCCTATGCTAGT | 4867 |
rs529602848 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203804 | TGTATTTTTAAAAAG[-/T]TTTTTTTTTTTTTGA | 4867 |
rs529643308 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158205 | AATTTGTCTAGGTTT[G/T]TTTTCTGACCCAGGA | 4867 |
rs529679617 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157620 | GAAGTCAGAGACTAG[A/G]TGTCATGCCTATACC | 4867 |
rs529692598 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202339 | CTCTTGCAATTTGGC[A/G]TCCATCTGAGTGTTA | 4867 |
rs529705831 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194912 | CGACAAAAACCACAT[A/G]ATTATCTCAATAGAT | 4867 |
rs529757179 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150998 | TGATGAAACCCTGTC[C/T]CTACTAAAAACACAA | 4867 |
rs529782814 | in-del | -/GTGGTTTTTGATACTTCTTTT | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158746 | CTTTTTATACTTCTA[-/GTGGTTTTTGATACTTCTTTT]GTGGTTTTTGATACT | 4867 |
rs529813884 | snp | C/T | 0.291216 | 0.246579 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172962 | TTTCTTTTTCTTTTT[C/T]TTTTTTTTTTTTTTT | 4867 |
rs529814907 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141906 | TGAACCCGGGAGGCG[A/G]AGCTTGCAGTGAGCC | 4867 |
rs529816484 | snp | A/G | 1.64743e-05 | 0.00287 | missense | NPHP1 | GRCh38.p7 | 2:110125656 | TCTGATCTTTTTAAT[A/G]TGCTTTCTTTTCCAG | 4867 |
rs529835290 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193934 | ACGAAATGAAGGCAG[A/C]AATAAAGATGTTCTT | 4867 |
rs529855443 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202798 | TGAGGCTGACAAGAA[A/G]AGAGTACACATATAC | 4867 |
rs529925141 | snp | C/G | 3.35205e-05 | 0.00409379 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165001 | AATAATAAAAATAAA[C/G]AAATAAAATGTTTCC | 4867 |
rs530029799 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141026 | TGTGAGCAATGAGCA[A/G]GTCATGGTGGGACAG | 4867 |
rs530098746 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124628 | CCCATGTCAAGCCCC[A/G]ATGCCCACAGGCCAT | 4867 |
rs530121510 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198596 | TCTTCCCTAAAAACA[A/G]AAAAACAAACAAAAA | 4867 |
rs530156143 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164187 | GACTACAGGCATGAG[C/G]CACCACACCTGGCTA | 4867 |
rs530380228 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192609 | TCCAGGAGAACTTCC[C/T]CAATCTAGCAAGGCA | 4867 |
rs530416586 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128939 | TCCTAAGTCAAGGAA[A/C]AAATGGGCAAAGATT | 4867 |
rs530435357 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148482 | GCAAGAACGGCCTCA[C/T]ACAGGGTTTCAGCCC | 4867 |
rs530454608 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136900 | AACAAAGCTGGAGGC[A/G]TCACGCTACCTGACT | 4867 |
rs530463996 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200148 | TAATCCCAGCTACTC[A/G]GGAGGCTGAGGCAGG | 4867 |
rs530517215 | snp | A/C | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137541 | ACACTTCTCAAAAGA[A/C]GACATTTATGCAGCC | 4867 |
rs530540778 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190758 | TGCTGTCACCTCTCA[C/T]TATCATCAGAATGAA | 4867 |
rs530550237 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145375 | TGCTCACTGCAGTCT[C/T]GACCTCTCAGCCTCA | 4867 |
rs530656914 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184793 | GAGACAGAGAAGGCT[C/T]AGTACTACCTGCCTG | 4867 |
rs530667028 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197090 | ATGATGAGAACACAT[A/G]GACACAAGGAGGGTA | 4867 |
rs530669562 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190530 | CCGGAACTCACGCTG[A/G]CCCACAAGCACCGTG | 4867 |
rs530685012 | in-del | -/T | 0.301429 | 0.244653 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177744 | ATGTCCCTACTTCAA[-/T]TTTTTTTTTTTTTTA | 4867 |
rs530741505 | in-del | -/AC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125970 | ATCCATGAAAACTAT[-/AC]AACCACAGCACCTGA | 4867 |
rs530751687 | snp | C/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196440 | CAGGGAAATGCAAAT[C/G]AAAACCACAATGAGA | 4867 |
rs530767337 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152237 | GGCAGGGAGATTGCT[C/T]GAGCTCAGGAGTTCG | 4867 |
rs530773331 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160064 | GAGTTGAATGGAAAA[G/T]AATCTAAGGGAATGT | 4867 |
rs530805471 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155378 | GCCCCCTCACACAGA[A/G]TCCCTCCTGGGGCAC | 4867 |
rs530815456 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174552 | TTTTCCTTCTACATA[G/T]AGTCAGTCCTTGTAA | 4867 |
rs530839649 | in-del | -/A | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196386 | GACATTTATGCAGCC[-/A]AAAAAACACATGAAA | 4867 |
rs530877220 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204063 | ATATAAGTAACAATG[C/T]GATGAATACTTTTAT | 4867 |
rs530879160 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198495 | TAGATTTAGTTGGGG[G/T]TCTTTCTTTTAAAAG | 4867 |
rs530903859 | snp | C/T | 0.00159617 | 0.0282053 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123250 | TTGAAAAGGCAAAAG[C/T]GACTCTGTTTTTGTA | 4867 |
rs531004009 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135021 | AGACAAAATGATGTA[G/T]AAATATGTAGAATAT | 4867 |
rs531024509 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189371 | CTCGCTGGCTCAGGA[A/G]TGAAGCTGCAGACCT | 4867 |
rs531042910 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142966 | AGGCTAAGTGAAAGA[A/C]GCCAGACTCAAAAGG | 4867 |
rs531108799 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173872 | TTTTAGTTCTGGCAA[A/C]TTTTGCTTTATACAT | 4867 |
rs531145609 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182948 | TAAAGGGATGGAGGA[A/G]AATTTACCAAGCAAA | 4867 |
rs531202216 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127845 | TCCTGTTACACACCT[A/G]GGGAAATATTCCTGT | 4867 |
rs531215872 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170939 | GCTGAAAAGAGGTAC[A/G]CGGAATGTAGCCCAG | 4867 |
rs531234944 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126877 | TGGTAAAATTTGTCT[A/G]TTTTTGTTAGTTACA | 4867 |
rs531262422 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189924 | TTGAGCTAGATACAG[A/T]GTGCCGATTGGTGTG | 4867 |
rs531311289 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163640 | TGAGTTTGAGGAAGA[G/T]AATTTTCATTTGGCT | 4867 |
rs531420187 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192375 | GCACAAGCTTCAGTA[A/G]CTGATTCGATCAACT | 4867 |
rs531432670 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139185 | ATCAAAAAAAAGGAT[A/G]ATGAATTTATAGCAA | 4867 |
rs531453000 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181356 | ACCTCCCAAAAGGGG[C/T]TTCCAGCCACCTCCT | 4867 |
rs531456187 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198511 | TCTTTCTTTTAAAAG[C/T]CTATTTACAGAAAAC | 4867 |
rs531474586 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123732 | CCATCATTTTATTCA[C/T]GTAATCGTGGAGGAT | 4867 |
rs531534672 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186609 | CCCACCCCAATCCCA[A/G]ACTCCATGCAGTAGT | 4867 |
rs531656216 | snp | A/C/T | 0.000328213 | 0.012807 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163024 | TTTGCTGAAAGAGTG[A/C/T]AGTGGCTGATAGGCA | 4867 |
rs531712289 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138653 | CAAGGGGCAGAACGA[A/C]CTGAGCATGAACAAC | 4867 |
rs531783737 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191898 | ACCCAGGCAAACAGC[A/G]TCTGGAGTGGACCTC | 4867 |
rs531785191 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161437 | AAAGTCAAGGTAGCA[A/G]GTCCAAATTCTGCCT | 4867 |
rs531834771 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133220 | GAACAGAAAAAAAAT[G/T]TCATGCAAATAGCAA | 4867 |
rs531880058 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198893 | ATAAGCCAGACCTAA[A/T]AAAGAAAACCGGCAA | 4867 |
rs531911854 | in-del | -/T | 0.182933 | 0.240836 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156781 | GTGTTTTGGTTTCTG[-/T]TTTTTTTTTTTTTTG | 4867 |
rs531915311 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168817 | CATTTATGCAAATGG[A/G]AACCATTTTTCACAA | 4867 |
rs531954512 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168266 | TCACATGCGTAAGAG[C/T]ACTTCACAGGTCCCC | 4867 |
rs531997521 | in-del | -/A | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141816 | CTCTACTAAAAATAC[-/A]AAAAAAATTAGCAGG | 4867 |
rs532011371 | snp | A/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206868 | TTTCGGTTACAAGTA[A/T]TCATTACTTGCGATT | 4867 |
rs532052893 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110207060 | GTGCTATAAATGATA[C/T]GATTACTCAGCTAAT | 4867 |
rs532059439 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168442 | AAGGAAGGCATAAAC[C/T]AAGACTAACCTCTAG | 4867 |
rs532092553 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173824 | CATGTAATTAGATCA[C/T]GGTGGTTAAGGATTG | 4867 |
rs532096469 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143808 | ACCTCCCTAAGGGCA[C/G]AGGATTGTTTGCTAA | 4867 |
rs532111446 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203780 | TTTCTTATTTTTAAT[A/G]AGAACTCAGTGTATT | 4867 |
rs532181485 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158895 | TGTTAAGTAAGATAA[C/T]GCTAGTTTTAGGTTT | 4867 |
rs532319474 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165819 | CTGAAAAGGTACCAA[C/G]ACATAAAAATGATAA | 4867 |
rs532357251 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173600 | ACCATTGTGTTACAA[C/T]TGTGTACAGTATTCA | 4867 |
rs532414153 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202934 | CGTGTATATACCCCC[A/C]AAAAAGAAATGATTC | 4867 |
rs532449136 | in-del | -/A | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200254 | GAGAGACTCTATCTC[-/A]AAAAAAAATAAAACA | 4867 |
rs532452729 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165321 | AATCTTGAGCATAGA[G/T]GGGAATTTAGTATAT | 4867 |
rs532532352 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182080 | ACAGGCGGACAAGAA[C/T]AGGGAAAAAAGAATG | 4867 |
rs532549148 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201263 | CACAACAGCAAGTCC[A/G]CAACCATCAGGTTTA | 4867 |
rs532571579 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133436 | TGAAGGGAGCAATAC[A/G]TAGATCTATAATAAT | 4867 |
rs532584454 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141807 | GAAACCCTGTCTCTA[C/T]TAAAAATACAAAAAA | 4867 |
rs532606659 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126578 | TAACTGCTGTGCTAT[A/G]GGTCCTTAGGAGTTT | 4867 |
rs532626228 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126744 | AATTTTATTCAGTTG[C/G]TGCAAAAGTAATTGT | 4867 |
rs532636215 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182700 | AAACACACTGAAGTA[C/T]ACAGACCAGTGACAC | 4867 |
rs532638608 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167925 | AGAAGTGGCATCAGC[-/A]AAAAGATATCTCAGT | 4867 |
rs532710110 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201847 | CATTTGCTGAGTTTC[A/G]ACAAATGCATACATC | 4867 |
rs532727885 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160715 | GGTGTTTTAACAGAG[A/G]GAATGCACTATCTGA | 4867 |
rs532795020 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187855 | CAGGATGAAAGTTTG[C/G]TTCAACATATACAAA | 4867 |
rs532798834 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148626 | AACTTCACTTTTAAA[A/G]GGAAAATACCTTTAC | 4867 |
rs532810539 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173226 | ACAGGCGTGAGCCAC[A/C/T]GCACCTGGCCACATG | 4867 |
rs532823239 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205503 | GGTAATTGTTCTACA[A/G]CAAATCTATGAGCAA | 4867 |
rs532846884 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186618 | ATCCCAGACTCCATG[C/T]AGTAGTCTCCCCCAT | 4867 |
rs532870795 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198864 | CCTAGTCCCTCATTG[C/T]TCAATAAAAATAGAT | 4867 |
rs532877034 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149892 | AGCACAGTTGGAAGA[G/T]TTCATCTTTGAAAAA | 4867 |
rs532877109 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141222 | TGATATAGCACCATC[C/T]ACCTGGCTTTATGTT | 4867 |
rs532907815 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188046 | CATATATGACAAACC[A/G]ACAGCCAATATCATA | 4867 |
rs532908240 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148302 | CTGTCACGTGAGATG[C/T]CTGCTCTCCCTTCAC | 4867 |
rs532953894 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130491 | TTAAAAGGCTTACCC[A/G]TCCTCCCCCTTAGAG | 4867 |
rs532979911 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139188 | AAAAAAAAGGATAAT[A/G]AATTTATAGCAAATT | 4867 |
rs532992701 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129784 | GGAATTGAGGATTCT[A/G]GCCATATGACCAAAC | 4867 |
rs533070620 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184865 | CCTGAGCTGCTCTTC[A/G]GGCCAGACTTGATCA | 4867 |
rs533080112 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177956 | GTATTGCCCAGGCTG[G/T]TCTTGAACTCCTGGC | 4867 |
rs533125951 | snp | C/T | 3.2987e-05 | 0.00406108 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110160247 | AATACGACTTGGTCT[C/T]GACCTAATCTGAAAG | 4867 |
rs533127736 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168189 | CAATAGACACCTATT[A/G]TTTGTTATGATCAGC | 4867 |
rs533161651 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167530 | AGGCCCAGAGAGTGC[A/G]TGCCAGCCACCCCCA | 4867 |
rs533203793 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154109 | AATCCAGTGGGTGGT[A/G]ATTGAATTATGGGGA | 4867 |
rs533254531 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153494 | TATTTAAGACAACTA[C/T]ATTACAAGCTAGGGA | 4867 |
rs533279085 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185076 | TGTATTCCACGTGGA[C/T]TGAGGGCTCTATCCT | 4867 |
rs533289107 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137789 | TCAGGGATCTAGAAC[C/T]AGAAATACCATTTGA | 4867 |
rs533343419 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136710 | CATTCCATGCTCATG[G/T]ACAGGAAGAATCAAT | 4867 |
rs533358184 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128021 | AGCTATAGTGCCAGA[C/T]GAACTTATCTAAAAT | 4867 |
rs533424939 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205757 | TATTTATGTACTTTT[C/T]TCTTCAAGTATAATA | 4867 |
rs533446484 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139172 | AAGATGGAATGCATC[-/A]AAAAAAAAGGATAAT | 4867 |
rs533521617 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133598 | TTTCTCAAGTGCACA[A/T]GACATATTCTCCAGG | 4867 |
rs533583483 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190455 | CCCCTCACTGCCCAG[A/G]GCCGGTGGGGCTGGC | 4867 |
rs533584128 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156380 | CACCTTCTGCCATGA[C/T]TGTGAGGCCTCCTCA | 4867 |
rs533604308 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193597 | ACATTAGACAGATCA[A/C]CGGGACAGAAAGTTA | 4867 |
rs533665303 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140176 | ATATTTTGGGGTCAT[A/G]CAAAGTGGAGAGGCA | 4867 |
rs533688393 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192699 | CAACTCCAAGACACA[C/T]AATTGTCAGATTCAC | 4867 |
rs533765322 | snp | A/T | 0.0170251 | 0.090679 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145510 | GCCCAGGCTGGTCTA[A/T]AACTCCCAGGCTCAG | 4867 |
rs533782985 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123162 | AACAAGGCCTGAAAG[A/G]GTGAGTCGACTCCAC | 4867 |
rs533815062 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163729 | ACAGTGGAGTATTCT[C/T]GGCTCACTGCAACCT | 4867 |
rs533848751 | snp | A/C | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177303 | GTGGAAATTCTAGAT[A/C]CTTGCATCTACCACC | 4867 |
rs533973149 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204248 | CCTGCTTCATCACAC[C/G]TTCCTCAAGACAGAG | 4867 |
rs534019640 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169290 | AAGAACTAAAATTCA[C/T]ATATTCACTTAAATT | 4867 |
rs534026706 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179222 | TCTGCAGAGACATTG[A/G]TATCAGAGCTGCCAT | 4867 |
rs534052463 | snp | C/G/T | 5.04132e-05 | 0.00502041 | missense | NPHP1 | GRCh38.p7 | 2:110131732 | TCTCCAAGAATTTGT[C/G/T]GATAAAATATCAACA | 4867 |
rs534104668 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154927 | ATAGGTAACAAGGAG[A/C]CAAATGTTACTCCCC | 4867 |
rs534113358 | snp | G/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110207019 | GTGCACATTCAAGTT[G/T]GAGAAGTACCACTGA | 4867 |
rs534156090 | snp | C/T | 0.00398564 | 0.0444627 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205903 | CTAGTCCTTGCCTAC[C/T]CCCAACCTCTCAACC | 4867 |
rs534206738 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138023 | AGTTCATGTCCTTTG[C/T]AGGGACATGGATGAA | 4867 |
rs534210307 | snp | C/T | 0.00029788 | 0.0122005 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146853 | AGGAAATAAGACAAG[C/T]ATATGAAACTTAAGG | 4867 |
rs534307566 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127260 | GTACCCTTGGGTGAC[C/T]GTGGAGCAGCATCTT | 4867 |
rs534342245 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135350 | GGCGTGTTGGCAGGC[A/G]CCTGTAGTCCCAGCT | 4867 |
rs534373799 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197539 | TAACATAAAACACGT[A/G]TATTGGGATTGCCTC | 4867 |
rs534376520 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146011 | CAATCTTCCAGATTA[A/C]AGATAGGTGAAATTC | 4867 |
rs534406529 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166270 | TAAGGGGATAATCGG[G/T]CAAGTGTGCAAAGAT | 4867 |
rs534412942 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128049 | AATTACAGGAGATCA[C/T]ATGTACCATGAACAT | 4867 |
rs534446851 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174148 | AAGTCTATCTCTTCT[A/G]AATAGTATATATTTG | 4867 |
rs534451951 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191395 | CTCAGAGGGTCCTAC[A/G]CCCAGAGAGCCTCGC | 4867 |
rs534505786 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194169 | GATCAGAGCAGAACT[A/G]AAGGAGATAGAGACA | 4867 |
rs534553592 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150607 | CAGGCTGGAATGCAG[G/T]GGCATGATCTAGGCT | 4867 |
rs534616690 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183388 | ATAACTAGCCAGAAC[C/G]TCCCCTTTATTTCGG | 4867 |
rs534619211 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134439 | AACACCAATTTTCCT[C/G]AAACTTTTCCAAAAA | 4867 |
rs534708756 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190229 | GTCCCACACCGTGCG[C/T]CCGCACTCCTCAGCC | 4867 |
rs534771244 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186464 | TAAGGAGGGAGAGGG[C/T]CAGACCAGAGTGCCA | 4867 |
rs534785256 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146096 | GGAGCCCAAAATTTT[A/G]TAATCCAAATTTGGG | 4867 |
rs534800957 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203023 | CATGGAATCAACATA[A/G]ATGCCCACCAATGGT | 4867 |
rs534928127 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134162 | AGAAATGAAAGAGGG[G/T]ATATTACTATTGATT | 4867 |
rs534983974 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157232 | TTCATTATTTTGATA[A/T]ATTATTGAAAATAAA | 4867 |
rs535021176 | snp | C/T | 1.64765e-05 | 0.00287019 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164567 | GTCCTCTGCTCTGTA[C/T]ATTCCATGCCCTGAA | 4867 |
rs535022470 | snp | A/C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173083 | CCTGCCTCCGACTCC[A/C/T]GAGTAGCTGGGACTA | 4867 |
rs535070443 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162388 | AAGGCAGAATTTACC[A/G]CGAGACCTGAAGGAT | 4867 |
rs535107546 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169003 | AAATAGTATTTACTG[A/G]ATATAATTACCCACT | 4867 |
rs535221349 | in-del | -/A | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163398 | AAGTATACCCTTATC[-/A]AAATGTCCCTGCTCC | 4867 |
rs535235372 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180888 | ACAGAACTGTGTGGT[A/G]TCTCAGCAGAGCAGC | 4867 |
rs535262668 | in-del | -/A/AA | 0.0248855 | 0.109023 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183032 | TAAGCCAATAAAGAT[-/A/AA]AAAAAAAAGACAAAG | 4867 |
rs535317929 | snp | A/C | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137899 | ATTGCGGCACTATTC[A/C]CAATAGCAAAGACTT | 4867 |
rs535348364 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133661 | AATAAATTTAAAAAT[-/A]ATTGAAATCATACAA | 4867 |
rs535364009 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125110 | GAGACCACAAGACCT[A/G]AAAAGCCAAGAAGAT | 4867 |
rs535494303 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153573 | AATGTTAACACTAGT[A/T]GACTGTGGTAAGCTA | 4867 |
rs535518817 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184517 | CACAGGCAGGACCAC[A/G]GGGGTGGTGCTGGAT | 4867 |
rs535519173 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155046 | ATGGTTTCATGGGCC[A/G]GGCCGAGGGTCCCCA | 4867 |
rs535523157 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144417 | AAACGCTATGCTTAT[C/T]AGAATGTAGCTACCT | 4867 |
rs535540857 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190866 | AAGCAAATTTATAAG[A/G]AAAAAAAACCCCATT | 4867 |
rs535595877 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149897 | AGTTGGAAGATTTCA[A/T]CTTTGAAAAACACCC | 4867 |
rs535602187 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190570 | GGTTCCCACCCGCGC[C/T]TCTCCCTCCACACCT | 4867 |
rs535615891 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159454 | AATTATAGGTTTAAT[A/G]TCTTTACCAGAGGTT | 4867 |
rs535633984 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129897 | GTCTTAGTCTGTTTG[C/T]GCTGCTGTAGTGGAA | 4867 |
rs535693728 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145034 | TGATAAGTAAAAAGT[A/G]AAAAATCCCTCCCCA | 4867 |
rs535728571 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168335 | CCTCCAAAATTAAAG[C/T]AAATTCTATATCTCA | 4867 |
rs535767229 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177325 | TCTACCACCTTCAGC[A/G]TTTTTTCCCAGGATA | 4867 |
rs535776177 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204313 | GTGCTTTGCAATTAC[G/T]TGAGTATCTTTGAAG | 4867 |
rs535826996 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196794 | ATTAAGAAAATGTGG[C/T]ACATATACACCATGG | 4867 |
rs535848592 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193615 | GGACAGAAAGTTAAT[A/G]AGGATATCCAGGAAT | 4867 |
rs535905455 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181873 | GTTGAAACCCACTGC[A/G]AAGAAGCTAAGAATC | 4867 |
rs535951210 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182594 | GACCAAGCAAATGCT[C/T]AGGGAATTTGTCACC | 4867 |
rs535959260 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137169 | ACCTTATACAAAAAT[C/T]AATTCAAGATGGATT | 4867 |
rs535974242 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165894 | ACACAATCCATACAA[C/G]TAAAAAGCACTCACA | 4867 |
rs536006631 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156443 | CTTTTGTAATTTGCC[C/G]TTTCTTGGGTATGTC | 4867 |
rs536048500 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166977 | ACATTGGATTTTGAA[C/T]TTAATGTTAAAAAAG | 4867 |
rs536059633 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163807 | CTGGGACTACAGACA[G/T]GCGCTACCACGCCCA | 4867 |
rs536117843 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157026 | GTGCTCTGCCCGCCT[C/T]GGCCTCCCAAAGTGC | 4867 |
rs536279996 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131846 | CTACAATCCAACTTA[C/T]AATGTTTTGATGTAT | 4867 |
rs536285887 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140611 | AGTGCTTCCGGACTC[G/T]TGGAAGCTTATCAAC | 4867 |
rs536318255 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162677 | GGTTTTGGCTAGAAT[A/G]GGATAGGATTCAAGG | 4867 |
rs536480547 | in-del | -/A | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144921 | TTTTTCAAATGTGTT[-/A]AATCATTATTTGAAA | 4867 |
rs536551645 | snp | C/G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200697 | AGCAAGAACAATAAC[C/G/T]TTTGCTTTTCTTTCA | 4867 |
rs536582646 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192158 | CAAAGCTGGACGGAG[A/C]ATGACTTTCATGAGT | 4867 |
rs536670045 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179395 | TCTGAATCCTTAATA[C/G]CAGGTGAGTTCATCA | 4867 |
rs536748002 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159583 | GCTGTTTATAATATC[G/T]CCTTATTGGCCTCTT | 4867 |
rs536752075 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194992 | TCAAGAAATTAGGTA[C/T]TGATGGGACGTATCT | 4867 |
rs536769158 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180379 | CTATAGCTCATGATG[A/G]GATTTTTTTAATTCA | 4867 |
rs536789461 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170184 | TGGAGAGACTGAGGC[A/G]GAGAGGGAGCTGAGT | 4867 |
rs536804246 | snp | A/G | 0.0162398 | 0.0886349 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135509 | AAAAAAAAAAAGTGA[A/G]TTCTTTAAGACCCTC | 4867 |
rs536897832 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186311 | GTGTTGGAGAGCCAG[C/T]GTCCTTAGGACTGGA | 4867 |
rs536913439 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129898 | TCTTAGTCTGTTTGC[A/G]CTGCTGTAGTGGAAT | 4867 |
rs536925496 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189908 | GGTGTGTTTACAAAC[A/C]TTGAGCTAGATACAG | 4867 |
rs537042320 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202533 | CAAACTTTCCAGATA[A/G]TCAAGGTATCAAAAG | 4867 |
rs537060659 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157854 | AATTTCACATTGACC[A/G]TTATCAGCTCAAGCA | 4867 |
rs537080523 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128238 | TATCAGCAGGAGTCA[C/T]CCCCTAATATGCTCA | 4867 |
rs537093281 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189683 | GCTGATTGGTCCATT[A/T]TACAGAGAGCCGAGT | 4867 |
rs537117523 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195043 | AAGACAAACCCACAG[C/G]CAATATCATACTGAA | 4867 |
rs537150209 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167694 | ACTCGTGAATGTATA[A/G]CCAGTCAGTCAGAAG | 4867 |
rs537153470 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203183 | GGAACAGAAAACCAA[A/C]TACCATATGTTCTCA | 4867 |
rs537197828 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144122 | TGGTTAATGAACATA[A/G]TAAAAGATGCTCAAT | 4867 |
rs537227161 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195843 | AGAGCCCTCAGAAAT[A/T]ATGCCATATATCTGC | 4867 |
rs537270043 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172632 | CAAAAAATTTAAAAA[A/T]TTTGCCAAGCGTAGT | 4867 |
rs537271836 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182255 | AACCTAGCAAGACAA[A/G]CCAACATTCAAATTC | 4867 |
rs537302915 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183943 | AAAAGAACTGAAATT[A/G]TAACAAACAGACCAA | 4867 |
rs537392008 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190224 | TGCCAGTCCCACACC[A/G]TGCGCCCGCACTCCT | 4867 |
rs537413069 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150641 | TGCAACCTCCGCCTC[C/T]CAGGTACAAGTGATT | 4867 |
rs537463599 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166056 | CACTAATGACACTTT[G/T]TTTGCTGGTCATATT | 4867 |
rs537492876 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131987 | TTATATTTGTTTACA[C/T]TTTCGAGTCTCAACC | 4867 |
rs537526203 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151327 | ATTGAAATTCAATCT[C/G]TTATAAAATGCTCTA | 4867 |
rs537552470 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199342 | AGAAGGCTAAGGCAG[A/G]AGAATCGCTTGAACC | 4867 |
rs537633276 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126110 | CAGAATGAGACAGAC[C/T]GAAGTACAATTTTGT | 4867 |
rs537672034 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125202 | ACCGATTAAAGCAAG[C/T]TCGGATTGGTAATTA | 4867 |
rs537677227 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130943 | CATGAAATTATGTGT[G/T]TGAGGCCTGGGACGC | 4867 |
rs537679799 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134254 | GACCTAAATGAAACA[A/G]GCACATTTCTAGAAA | 4867 |
rs537720817 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203946 | GCCTAAAAATTTTTA[C/T]AAATATGAAAAAGAA | 4867 |
rs537756975 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170965 | CCCAGGTGAGCTTTA[C/T]CTTTAAAGTCGCCCC | 4867 |
rs537781926 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169084 | ATTCATCTTTGAAGA[C/T]AAAAGCATTTCCACC | 4867 |
rs537815695 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147113 | GTCTCTTGACTGATA[C/T]AAGCATTCTGTGGAG | 4867 |
rs537854104 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155139 | GGGCCAAGATAAGCT[C/G]AGGCTGTGGCTTCAG | 4867 |
rs537891009 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174595 | GTATTTATGAATTCA[C/T]TGGCTCACTAAACTT | 4867 |
rs537895205 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145865 | TGGCACCCCAGGTAA[C/T]GCACCCTCTAGGATG | 4867 |
rs537906132 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185388 | TGATGGCCTGAGGCC[C/T]GGGGGTGACCATTAA | 4867 |
rs537907481 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177484 | TCCTAAATCTGAAAC[G/T]TTTGGAGCATCAAAA | 4867 |
rs538007314 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178143 | TGACATTAAATATAT[C/T]ATCTTTATTTTCTAA | 4867 |
rs538125145 | snp | C/G/T | 0.00159649 | 0.0282165 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190611 | TGAGGGAGCTGGCTC[C/G/T]GGCCTTGGCCAGCCC | 4867 |
rs538138461 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162476 | AAGCAGCCCTTCCAT[A/G]ACAACTCAACAACTC | 4867 |
rs538196350 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137968 | AAGAAAATGTGGCAC[A/G]TATACACCATGGAAT | 4867 |
rs538285577 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203566 | TACACAGTCACCTAA[A/T]TATTTACCTTCCAAA | 4867 |
rs538286045 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166398 | TAAAAGACTACATTT[C/T]CCAAGACTTCCTTGC | 4867 |
rs538296082 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142060 | TATGTCCCAGTAATC[C/T]CACTCCTAGGTATTT | 4867 |
rs538324530 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170597 | TGGACACAAAGGTAA[A/G]CCAGACATGATTCCC | 4867 |
rs538369925 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131492 | GAACTGAATATGTGT[C/T]GAGTTCACAAAGCTC | 4867 |
rs538377034 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185039 | GAAGTGAAGATCAGG[A/G]TATTTGCACCTCAGG | 4867 |
rs538386425 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182456 | TGGAAACCCAAACCC[C/T]ATAAGCCAGCAGAGA | 4867 |
rs538429780 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149506 | ACACAGTTGAGGTGG[C/T]TGGCCTCATCCACAC | 4867 |
rs538432605 | snp | C/G | 0.000399281 | 0.0141238 | utr-variant-5-prime, upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205042 | AGAAGGTGACGCCAT[C/G]GATGTGCGCCCGCCT | 4867 |
rs538443957 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160626 | GCATAAAACCAATGC[C/T]ACCTGGCATTAAGAT | 4867 |
rs538462649 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157119 | ATTTATTAAAGAAGC[A/T]CTCTTACATAAACAG | 4867 |
rs538483063 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161804 | ACTTCCAAAATGCCA[C/T]GCTGCTTACTAAGAA | 4867 |
rs538532485 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141640 | TGGAACTCTCATACA[C/T]TGCTAATGAGAGTGC | 4867 |
rs538543053 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205966 | CAATATCCTAACTTA[C/T]AAGAGCACAAACTTG | 4867 |
rs538547496 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200071 | CCATCCTGGCTAGCA[C/T]GGTGAAACCCCATCT | 4867 |
rs538555318 | in-del | -/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127090 | CTGGTTTTGGCCAAT[-/G]CAATGTGAGCAGAAG | 4867 |
rs538683976 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183285 | GGAACACCTGGCCCA[C/T]CCAGGGCGGAAAACT | 4867 |
rs538690900 | snp | A/G | 0.000399281 | 0.0141238 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124021 | GGAGCACGCAGTCAT[A/G]GTAAACCAGGAGAAA | 4867 |
rs538704413 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128566 | GCAGGACCTCTCTAG[A/T]GAAACAGAATTTGGA | 4867 |
rs538769359 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189415 | TACAGCTCTTAAGGC[A/G]GCACGTCTGGAGTTG | 4867 |
rs538828562 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192688 | CTCGAGAAGAGCAAC[C/T]CCAAGACACATAATT | 4867 |
rs538893341 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193975 | GAGAACAAAGCCACA[A/G]CATACCAGAATCTCT | 4867 |
rs538897889 | in-del | -/A | 0.49681 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151169 | AGATTCAGTCTCAAG[-/A]AAAAAAAAAAAAAAA | 4867 |
rs538978406 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193707 | AACAGAATATACATT[A/T]TTCTCAGCACCACAC | 4867 |
rs538980388 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202433 | TGATTACTTGTCCTA[C/T]AGACACCGAATAGAA | 4867 |
rs538984019 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132665 | TCTCAAAACAAAACA[A/T]CAACAACAAATGAAA | 4867 |
rs539005513 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138528 | ATTTGACCTACATTT[G/T]AAAGACGGGATGCAG | 4867 |
rs539018074 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124849 | GATCAAATGGAGGCT[A/G]AAATAAGGATACAAT | 4867 |
rs539053923 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171324 | AATGAACAAAACCAA[C/G]ATCTTTGCCCTCCTA | 4867 |
rs539067799 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177211 | GCTTTGTATATTTTG[C/T]CCAGACTTTATAGTC | 4867 |
rs539118166 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156494 | AAACTAATACAGGAA[G/T]ATAGGAAAAAGAAAA | 4867 |
rs539135167 | in-del | -/TTTTTTTT | 0.342134 | 0.232404 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180449 | TATGCCGTTTGAGTC[-/TTTTTTTT]TTTTTTTTTTTTTTT | 4867 |
rs539170246 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172341 | ATATTGCCTACTGTA[C/T]GTCTGTTTATTGTTC | 4867 |
rs539192658 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140139 | GTGTGTCCCAACTCA[C/T]GTTTGAAATTCCCAG | 4867 |
rs539204400 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186474 | GAGGGCCAGACCAGA[A/G]TGCCAGGAGCTAATG | 4867 |
rs539267582 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190544 | GGCCCACAAGCACCG[C/T]GTGCAGGCCCGGTTC | 4867 |
rs539274062 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183981 | TCAAATTAGAACTCA[A/C]GATTAAGAAATTCAT | 4867 |
rs539284218 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139492 | AGACTGCCAAGCCCC[A/G]TGAGCAGGACTCTGG | 4867 |
rs539340824 | snp | C/G | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123292 | GTAAATCACATTCAA[C/G]TATCAGACTGAATTA | 4867 |
rs539363656 | snp | G/T | 0.000242193 | 0.0110017 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179591 | TTGTATAGGAAGAGA[G/T]GTTTTAATAATGTGA | 4867 |
rs539405452 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160885 | AAATAACTTATATTA[C/G]ACTGGGACTGGTGGC | 4867 |
rs539431921 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195288 | TATAATCTCCTTAAG[C/T]TGATAGGCAACTTCA | 4867 |
rs539513126 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134762 | CTCAATTGATGCTGA[G/T]AAAGCCTAAAATTTG | 4867 |
rs539518978 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161471 | TTATAAAAATATCGC[A/T]ATTTTCAAAATTATC | 4867 |
rs539665140 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165378 | AAATAAATTTTCAAC[A/G]CATGGTTAATAACTT | 4867 |
rs539691233 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136288 | TGTCCTCTCTCACCA[C/T]TCCTATTCAACATAG | 4867 |
rs539694948 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144941 | ATTATTTGAAATGAG[A/G]CCACTATGAACTTAT | 4867 |
rs539714399 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176307 | ATAGAATGTTCATTT[G/T]ATTTTTCTATATTTG | 4867 |
rs539723890 | in-del | -/TAT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141384 | CCTTTATGGGGTTGA[-/TAT]TATTATTATTATTAT | 4867 |
rs539827754 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185951 | TTCCATCCGTTCTTG[C/T]TGCAATGCCATCTTC | 4867 |
rs539829084 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159379 | TCTTTAAATGTTTGA[A/G]GAAATTCACAGGTGA | 4867 |
rs539871055 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182360 | GGTCAAAATGAAAAA[A/C]AAAAAAGTTAAAGGC | 4867 |
rs539943050 | in-del | -/TC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175878 | ACCTCTCTCTTACAT[-/TC]TGTTTTGTTCTTTGC | 4867 |
rs539955444 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201170 | AGGTCACAGGATCTG[A/G]GCTACATAGGCTAAG | 4867 |
rs540020873 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155260 | CTAGATTTCAAGAGG[A/T]TGTATGATATGTCTG | 4867 |
rs540095706 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201203 | TTTAGGGTAATCCTG[C/T]CCATGTCACCTATGT | 4867 |
rs540132957 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147272 | CCCCTAAGGCTTCCT[C/T]TGGGGGGCCTGCTCC | 4867 |
rs540188649 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131418 | AAAATATGACTATAT[A/C]TGACTCTTGGGATCT | 4867 |
rs540188700 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139579 | GATATACATGTGTAG[G/T]ACTGCTGGCTGAGTC | 4867 |
rs540224999 | in-del | -/AA | 0.46865 | 0.121211 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152599 | GAAGCCAGTAGGGTT[-/AA]AAAAAAAAAAAAAAA | 4867 |
rs540284472 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177706 | AAGCTATTATTAACA[C/T]ACACTCTGGCAGACA | 4867 |
rs540361165 | snp | C/T | 3.29728e-05 | 0.00406021 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178495 | TTGTCCAAAAGAGTA[C/T]GCTCCTCTTCTTTTC | 4867 |
rs540372581 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166901 | ATAGCCCTTTGGCCA[C/T]ATGTAGCTAGTGAGC | 4867 |
rs540385582 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146633 | ACACTAAAGTCAACA[C/T]AAAAAGTCCTCTCCC | 4867 |
rs540420408 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198099 | AGGAAAGAAGGACAA[C/G]TAGCCAGCAAGAGAT | 4867 |
rs540447896 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184192 | TACCCATGCATATTC[A/G]TATCATGGCAGGAGC | 4867 |
rs540455169 | snp | A/G | 0.000798403 | 0.0199641 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206659 | ATCTACTTATTTATA[A/G]GGATTTCCACATTTT | 4867 |
rs540457049 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171663 | ATTCTAAAATGTTGC[C/T]GAAAATAATGTGAAC | 4867 |
rs540460937 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149752 | TCCTCCCTACGTCTA[A/T]GCAATGCTGACTCAG | 4867 |
rs540462852 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136744 | GTGAAAATGGCTATA[A/C]CGCCCAAGGTAATTT | 4867 |
rs540495750 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132490 | TGAAACCATATCTCT[A/G]CTGAAAATACAAAAA | 4867 |
rs540508890 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145196 | AGTCACATACTAAGT[A/G]TAGAAAGAAGAAGGT | 4867 |
rs540529210 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185105 | CTTGCCTCCATGACA[C/G]CTTTAAGAAGATGTG | 4867 |
rs540816072 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190706 | CCCAGGCAGAGGAGG[C/T]GCCAAGAGTGAGCGA | 4867 |
rs540865242 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157007 | GTCTAGATCTCTTGA[C/G]CATGTGCTCTGCCCG | 4867 |
rs540868932 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133201 | TCATGGGTAGAAAGT[C/G]AAAGAACAGAAAAAA | 4867 |
rs540919607 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172744 | AGCCAAGATTGCACC[A/G]CTATACCCAGTCTGG | 4867 |
rs540942418 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125478 | CGATCATGCGTAACC[C/T]TCTTGGAATGTGTTT | 4867 |
rs540949385 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184194 | CCCATGCATATTCGT[A/G]TCATGGCAGGAGCCC | 4867 |
rs540968303 | snp | A/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184652 | GCACCTCTACCTGCA[A/T]AAGGAGGGCTATGAT | 4867 |
rs541033714 | snp | C/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173436 | ATAATACATACTTAG[C/G]TGCTGTGTTCTACAC | 4867 |
rs541034227 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149194 | CTAATTTTGCTGGAA[C/T]AGGAACTTCACTGGC | 4867 |
rs541057502 | snp | G/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184888 | CTTGATCAGGGAGGA[G/T]AGTGAAGGCATCCAC | 4867 |
rs541123233 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150420 | TGTTTTTCTTTTTAT[A/G]TCAGGTATGACATAA | 4867 |
rs541146372 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140976 | TTCACAGGAGCATGC[C/G]AAGTCTTCACTGACT | 4867 |
rs541148181 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165508 | AAAATAAAAGAAACA[C/T]AAAAGCATTAGAAGA | 4867 |
rs541214859 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188525 | GGTGACACAAAAAAA[A/T]GGAGAAACATTCCAT | 4867 |
rs541278315 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182510 | TTAAAGAAAAGAAAT[C/T]TCCAACCCAGAATTT | 4867 |
rs541280672 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170680 | TAGTGCAATAGGTAC[C/T]AGAGTAGAGGTATAC | 4867 |
rs541290569 | snp | G/T | 0.00199481 | 0.0315187 | utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123453 | TTTCCCATTCTGTAG[G/T]TTGTTTTTTTCACTT | 4867 |
rs541375342 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182036 | GAGGAAAGAATCTCA[C/G]AGCTTGAAGATTATG | 4867 |
rs541449524 | snp | C/T | 0.00119737 | 0.0244387 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205593 | TCCCCCATATGGGAC[C/T]GCATCCCATGAATCC | 4867 |
rs541488902 | snp | A/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193764 | AGTTGGAAGTAAAGC[A/T]CTCCTCAGCAAATGT | 4867 |
rs541490834 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149682 | GGTAGACGAAAGTAA[C/T]GTAAAATAAAATATG | 4867 |
rs541500197 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187657 | AGGAGGGACTCCTCC[A/C]TAACTGATTGTATCC | 4867 |
rs541525447 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201636 | CAGTGAAAACCCATA[C/T]ACCCGCTACCTAGAA | 4867 |
rs541733753 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163951 | CAGGTGTGAGCCACT[A/G]TGCCCATGAGCCACT | 4867 |
rs541735367 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156182 | GTCCCGGTTCAAGCA[A/G]TTCTCCTGCCTCAGC | 4867 |
rs541737211 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171466 | AAAAGGAATATTAGC[C/T]GAACTTTGTTTAAAA | 4867 |
rs541770496 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163473 | TCTATTGGCAAATCA[A/C]ATGCACTGAAGAATT | 4867 |
rs541785288 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167841 | TTGAATTGCTGACAC[C/T]GGTTGGTGTAGAAGA | 4867 |
rs541797706 | snp | A/G | 0.00835141 | 0.0640778 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190377 | CCCGAGCCCTGCCCC[A/G]CGGGAAGGCAGCTAA | 4867 |
rs541813585 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136447 | TCAGCCCAAAATCTC[C/T]TTAAGCTGATAGGCA | 4867 |
rs541850079 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153833 | CTAAAAATACAAAAA[A/G]TTAGCTGGGTGTGGT | 4867 |
rs541856529 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172742 | TGAGCCAAGATTGCA[A/C]CACTATACCCAGTCT | 4867 |
rs541911464 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184754 | TCCTACCTATCCATA[A/T]ACCCCCAGAAGGAAG | 4867 |
rs541987824 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151730 | ACCACCTGGACTCTT[A/G]GAATACAAACTCCTT | 4867 |
rs542007931 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174455 | TAATTTAAATATCAC[A/T]TTTCACCAAAGATAA | 4867 |
rs542022864 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150844 | TGTGAGCCATTGCAC[A/C]CAGCAAAAAAATGGT | 4867 |
rs542031384 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167459 | AAAAACCCCTAAATG[A/G]TGGGGTTCCAGGAAC | 4867 |
rs542083574 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202728 | TACAATGAGGTACCA[C/T]CTCACACTGGTCAAA | 4867 |
rs542118553 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206145 | CCTAACATACTGATT[C/T]TACTGTTGCTGGGTA | 4867 |
rs542136125 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161020 | AAAATACAAAAATTA[C/G]CTGGGCATGGTGGTG | 4867 |
rs542180922 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160031 | TAGGTAAAAAATACT[C/G]TCTTGGGAATTGGGG | 4867 |
rs542294717 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159519 | AGTAAATTATGGTTC[C/T]CCAGGAATTTATCTA | 4867 |
rs542300791 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132354 | AGGTTACTAAAAGGA[A/T]TAAAATGAAGTAAGT | 4867 |
rs542350487 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141921 | GAGCTTGCAGTGAGC[C/T]GAGATGGTGCCACTG | 4867 |
rs542361072 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180988 | ATCCATCTGTATATA[A/T]CCCTAGAAAGGGAGC | 4867 |
rs542400168 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203595 | AATCCTTTTTACTTT[A/C]AACAAGAGAACAAAA | 4867 |
rs542422470 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147384 | GTAACATCTCTGTAA[C/T]GCTCTCTGGGTTACC | 4867 |
rs542422529 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156012 | CTTGTAACTCCCTCA[A/G]TTCTCACATGTCGTG | 4867 |
rs542449986 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199952 | GAAGACTATGGTTAC[C/T]TGGGCTTAAAAATAA | 4867 |
rs542510598 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195361 | CATTCTTATATACCA[A/G]TAACAGACAGAGAGC | 4867 |
rs542564122 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132986 | ATCAGTGAGGGAGGA[A/G]ATTAAGAACAAAAAA | 4867 |
rs542585021 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187399 | AACACCTCTATGCAC[A/G]TGAACTAGAAAATCT | 4867 |
rs542768356 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130320 | TTAGATATTATTAGG[A/C]TATTTTATTCTAATG | 4867 |
rs542799375 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191785 | CTGACACCTCATACA[A/G]CCGGGTACTCCTCTG | 4867 |
rs542868824 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191147 | GGGTTCATCTCACTA[C/G]GGACTATCAGACAGT | 4867 |
rs542893817 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138091 | AAAAAACCAAACACC[A/G]CATGTTCTCACTTAT | 4867 |
rs543030483 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162164 | CTACTCTTGCCAGAT[A/G]CTACACCAGGTTCTA | 4867 |
rs543102226 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203261 | GACTGCTGGAGTGGG[A/G]TGGGGGAGGGAAGAG | 4867 |
rs543220512 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185174 | CTATCCACAGGAAAA[A/C]CTTCTAATGTTGGGA | 4867 |
rs543240116 | snp | A/G | | | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147758 | CTACGAAAACAAATC[A/G]GCACACATAAAATTA | 4867 |
rs543440273 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201689 | CTTATTTGATCTATC[C/T]GTCAACCCACCTTAT | 4867 |
rs543449419 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179150 | CCAAGGCTCATGTGA[-/A]AAAAAAAAAAAAAAT | 4867 |
rs543533394 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134025 | TTAGGTCAGATATAG[A/G]CAAAATAAAGAATAG | 4867 |
rs543550162 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158927 | TCTTGTTGCATTTTG[-/C]CAATTTGAGGACTCT | 4867 |
rs543561144 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126465 | ATGCATTGATAGAGC[A/G]TTTCTCAGCAGGAGA | 4867 |
rs543625440 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182680 | ATTGATACCACCCAC[C/T]ATAAAAACACACTGA | 4867 |
rs543646634 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134726 | ATTAACAGAATTAAG[G/T]GGAAAAACCCACATT | 4867 |
rs543654386 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138650 | GAGCAAGGGGCAGAA[C/T]GACCTGAGCATGAAC | 4867 |
rs543675502 | snp | A/G | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123988 | TGAATGGGGGTAGGC[A/G]TGTGGAGTGGAGAAG | 4867 |
rs543699732 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174304 | GTTTATTTCTCCTTT[C/T]TTGCCTTTTTTGGGT | 4867 |
rs543710777 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146408 | CTCACAGAGGACCTC[C/T]GGACTCTGGACTTAA | 4867 |
rs543785249 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173531 | CCCATACATATAATA[A/C]CATATTTTTACTGTA | 4867 |
rs543865102 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189260 | CCGTGGACCCTCGCA[A/G]TGAGTGTTATAGTTC | 4867 |
rs543906667 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182070 | CTGAATTAAGACAGG[A/C/T]GGACAAGAATAGGGA | 4867 |
rs543918185 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142297 | TAAATTGAAAATATC[A/G]TAAGTTGAAGATAAT | 4867 |
rs543941341 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185943 | TCCTTGCTTTCCATC[C/T]GTTCTTGTTGCAATG | 4867 |
rs544035314 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163634 | TACTTATGAGTTTGA[A/G]GAAGAGAATTTTCAT | 4867 |
rs544109728 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206552 | AATAATTACAGGTGA[C/T]GAGATGAGCAAAACG | 4867 |
rs544163959 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156837 | GCTGGAGTGCAGTGG[C/T]GCAATCTTGGCTCAC | 4867 |
rs544173592 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154601 | TGAGGTAGTCTCTGA[C/T]GGAGATGAGGAACTT | 4867 |
rs544238557 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146370 | GTGATTTCAATGTCC[C/T]ACCTACAGAGGAAGG | 4867 |
rs544260721 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184584 | CAGGGCTTTGCCATG[C/T]CCCACTCCATCATGC | 4867 |
rs544280423 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177890 | TGGGACTACAGGTAC[A/G]TGCCACCAAGCCTGA | 4867 |
rs544306986 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138783 | CAGGGAAAGGGGTGG[A/G]AACTTCCTTCCTTCT | 4867 |
rs544338601 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185223 | CTGAAGTTAACTCCA[C/T]TTTAAAACTCGCTTT | 4867 |
rs544346182 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176665 | CTCTTTTAGAGAAGA[A/C]CTACCTCAGCTTTGT | 4867 |
rs544368762 | snp | A/C/T | 4.96482e-05 | 0.00498217 | missense | NPHP1 | GRCh38.p7 | 2:110144526 | GGTCCACTTCAATAC[A/C/T]TTTTTCATAAGGAGT | 4867 |
rs544409066 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152776 | AACTCTAAACTCTAC[A/G]TCAAGATCTGGTTCT | 4867 |
rs544415699 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161077 | AAGCTGAAGTGGGAG[C/G]GTCGCTTGAGCCCAG | 4867 |
rs544422399 | snp | A/G | | | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110144524 | AGGGTCCACTTCAAT[A/G]CCTTTTTCATAAGGA | 4867 |
rs544427440 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200399 | TGAAACCCATCTCTA[C/T]TCAAAATACAAAATC | 4867 |
rs544449549 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135866 | TAATATTCAGGCTTC[C/T]AGCCTGTTGGAAGAG | 4867 |
rs544472171 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189927 | AGCTAGATACAGAGT[G/T]CCGATTGGTGTGTTT | 4867 |
rs544474359 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154876 | AAGAAAATCACATTT[C/T]CTGAGGAGAAATTCA | 4867 |
rs544650503 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194012 | CATTTAAAGCTGTGT[G/T]TAGAGGGAAATTTAT | 4867 |
rs544667731 | snp | A/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187200 | AAGGAGATAGAGACA[A/T]GAAAAACCCTACAAA | 4867 |
rs544696143 | snp | A/T | 8.27712e-05 | 0.00643263 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164753 | GACAAAATAGCAAAG[A/T]GAGTCAGGTCAGGTT | 4867 |
rs544719496 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125612 | ACTGCAAATATGGAG[C/T]TCAGTGTGGAGACTC | 4867 |
rs544727316 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124523 | GTTGTTGGCTTATTT[C/T]CAGCAATGCCTGGGA | 4867 |
rs544731288 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164270 | TTGAATTCCTGGCCT[C/T]AAGTGATCCTCCTGC | 4867 |
rs544779267 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140852 | CACATTATTAATGGC[C/T]ATTGAAAGATTGAAC | 4867 |
rs544787898 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185368 | TGAGGAACTACCCAC[A/G]ATGGTGATGGCCTGA | 4867 |
rs544811988 | snp | A/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196146 | AACAAAAGCCAAAAT[A/T]GACAAATGGGATCTA | 4867 |
rs544813047 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139885 | ACCTACCGAAGGTTT[C/T]GGGTCAGGGGAGGAG | 4867 |
rs544872762 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136558 | AGCCAAATCATGAGT[A/G]AACTCCCATTCACAA | 4867 |
rs544893286 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190397 | AAGGCAGCTAAGGCC[A/G]GGTGAGAAATTGAGC | 4867 |
rs544906570 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163431 | TCCTGCTCCACCCTG[C/T]GCTTCCATTTCACAG | 4867 |
rs544930000 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181065 | TGGCCCCCACTTCCA[C/T]GGCAACTCACAAGTT | 4867 |
rs544948954 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125310 | CCTTCTCTTGGTGAT[A/C]CAGGCTTTGAGAGCT | 4867 |
rs544960380 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133133 | GGATGCACTAAAAAA[A/T]CACGATTTAATTATA | 4867 |
rs545007852 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181957 | ATAACTGACCTGATA[G/T]AGGTGAAAAACACAA | 4867 |
rs545162448 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132421 | ACACTTTGGGAGGCC[A/G]AGACAGGTGAATCAC | 4867 |
rs545199340 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148870 | CAATTCACTCTCCCT[C/T]GACAACTGTATCCCT | 4867 |
rs545204886 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156167 | ACCTCCACCTCCCAG[A/G]TCCCGGTTCAAGCAA | 4867 |
rs545406948 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155403 | GGGCACCACCTAGTG[C/G]AGCTGTGAGAAGAGG | 4867 |
rs545490792 | snp | G/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192465 | TTAGAGAAAAAAGAA[G/T]AAAAAGAAACAAACA | 4867 |
rs545516381 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203803 | AGTGTATTTTTAAAA[A/C]GTTTTTTTTTTTTTG | 4867 |
rs545592333 | snp | A/C/G | 0.00318978 | 0.0398085 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205146 | AGGCAGGTCACAGCC[A/C/G]GGGGAGTCACTTTTC | 4867 |
rs545599406 | snp | G/T | 0.000357913 | 0.0133727 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178356 | CTATATGTCTTTGAG[G/T]TAAACATTAAAGCTA | 4867 |
rs545760794 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169667 | TACTGCTTGTAAATT[G/T]TAATTATTACTTATT | 4867 |
rs545777627 | in-del | -/AAAG | 0.0941369 | 0.195465 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193405 | AAGATCAAAAGAGAC[-/AAAG]AAGGCCATTACATAA | 4867 |
rs545808982 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175173 | CTTTATAGAACATAA[C/T]TACTGTAAATAATGA | 4867 |
rs545819245 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159819 | TATTATTTCCCACTT[C/T]CTACTTTCTTCAGGT | 4867 |
rs545888742 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190479 | GGCTGGCTGGCTGGC[C/T]GCTCCAAGTGCAGAG | 4867 |
rs545923909 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196220 | GAGTGAACAGGCAAC[A/C]TACAGAATGGGAGAA | 4867 |
rs545931539 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173629 | CAGCACAGTAACATG[C/T]TGTACAGGTTTGTAG | 4867 |
rs545938611 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189596 | CACAGTGTGGAAGGG[G/T]ACCCAAGCGGGTTGC | 4867 |
rs545986673 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132750 | AAAATAATTCAACAT[C/T]GAAGTTAAATTGGTA | 4867 |
rs545995605 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174434 | CATCCCTAACTTATC[A/C]TAGTCTAATTTAAAT | 4867 |
rs545997395 | in-del | -/TACA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110164112 | ACAATCACAGCTCAC[-/TACA]TACAGCCTTGACTTC | 4867 |
rs546021526 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182712 | GTACACAGACCAGTG[A/G]CACTATGAAGCAACC | 4867 |
rs546079729 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169476 | GCTACAAAATGGCAG[C/G]AAGTGCTCCCTTCTA | 4867 |
rs546083402 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157484 | AAGGCATTTTCTTCA[C/T]GCTGGGGGTTAGCAG | 4867 |
rs546100303 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193897 | CTGAACAACCTGCTC[C/T]GGAATGACTACTGGA | 4867 |
rs546111119 | snp | A/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167392 | GAGCTGGAGACTGAG[A/T]TAATCACCAATTGCT | 4867 |
rs546113109 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158918 | TTAGGTTTTTTCTTG[C/T]TGCATTTTGCAATTT | 4867 |
rs546149733 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166480 | GTTTTTTTGTGTAAC[G/T]TCCAAGAAACCTTCT | 4867 |
rs546194350 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134748 | ACCCACATTATTTTC[C/T]CAATTGATGCTGAGA | 4867 |
rs546212939 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154909 | CCGGCTGCAGAAATT[C/T]GCATAGGTAACAAGG | 4867 |
rs546232632 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183547 | CTGTGAGACCCCTGA[C/T]TTCCCACTCCACACA | 4867 |
rs546415057 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190566 | GCCCGGTTCCCACCC[A/G]CGCCTCTCCCTCCAC | 4867 |
rs546420460 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181315 | TTTAAGTGGGTCTGT[A/C]ATCCCATTCCACCTG | 4867 |
rs546463927 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185255 | TTGAGTCAGAGTGTT[C/T]GTGAGGAATTGCCTG | 4867 |
rs546483284 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145565 | AAAGTGCTGAGATTA[C/T]AGGCATTGTGAGCCA | 4867 |
rs546497059 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141841 | AGCAGGGCGTGGTGG[C/T]GGGCGCCTGTAGTCC | 4867 |
rs546500723 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191191 | TGGGTGCAGCACACC[A/G]AGCATGAGCTGAAGC | 4867 |
rs546503914 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197249 | CGTTTACCTATGTAA[C/G]AAACCTGCACAATGC | 4867 |
rs546525645 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126191 | TAAATAAAAACCCCA[C/G]AGTTCAATTAGTCCC | 4867 |
rs546595378 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168312 | CAATGTTTTTCCCAG[A/G]TCCTGTCCCTCCAAA | 4867 |
rs546602639 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160350 | AAAATGTATACAGAA[C/T]TTTTAAAAAAGAAAA | 4867 |
rs546671001 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162330 | GTGTTCACATGAATG[G/T]GAGTAAGGGAAACCC | 4867 |
rs546706026 | in-del | -/CTACTACTACTG | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161173 | CCTGTCTCAAAAATA[-/CTACTACTACTG]CTACTACTACTATAA | 4867 |
rs546771689 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154111 | TCCAGTGGGTGGTGA[C/T]TGAATTATGGGGATG | 4867 |
rs546780923 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137805 | AGAAATACCATTTGA[C/G]CCAGCCATCCCATTA | 4867 |
rs546821491 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136992 | TATAGACCTATGGAA[C/T]AGAACAGAGCCCTCA | 4867 |
rs546841326 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167540 | AGTGCATGCCAGCCA[C/T]CCCCAACCAATACCT | 4867 |
rs546841448 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159443 | GATTTTTTTTTAATT[A/G]TAGGTTTAATATCTT | 4867 |
rs546893028 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138437 | ATCTTGATATACAGC[A/G]TGTGATACATAAGGT | 4867 |
rs546894940 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129818 | GTGAGGGAGAATATT[C/G]ACATTTCACAATAGA | 4867 |
rs546927236 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166886 | GCCCTATGTAATACA[A/G]TAGCCCTTTGGCCAC | 4867 |
rs547004910 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156997 | GGCCAGGATGGTCTA[C/G]ATCTCTTGACCATGT | 4867 |
rs547018803 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175939 | AAACTTTTAAGCTGT[C/T]TTTGGGTTCACTGAT | 4867 |
rs547030044 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132635 | CTCCAACCTGGGTGA[C/T]ACAGCAAGACTCTGT | 4867 |
rs547064098 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144949 | AAATGAGGCCACTAT[C/G]AACTTATATTATTTT | 4867 |
rs547086561 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196596 | TGGAAGTCAGTGTGG[C/T]GATTCCTCAGGAATC | 4867 |
rs547101322 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153553 | TTATACATCACTCCA[A/G]CTGGAATGTTAACAC | 4867 |
rs547127697 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152164 | AAACTGCATTAAAAA[C/T]GCAAGAGGGGCTGGG | 4867 |
rs547149889 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174814 | AGTTTTTGCATTTTT[C/G]TGCTTTTTTTTTTTT | 4867 |
rs547168079 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141340 | ATACTGGCTGTTTTA[C/T]GTATTTTCTTTCCAT | 4867 |
rs547190272 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193608 | ATCAACGGGACAGAA[A/G]GTTAATGAGGATATC | 4867 |
rs547205114 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149368 | ATACACAGAGACGCA[A/G]TAACAGAATTGTGAA | 4867 |
rs547214048 | snp | A/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130423 | CTTTAAGAGGTCACA[A/T]CATTCATGAAGTTTC | 4867 |
rs547241189 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164334 | GAATCACCATGCCTG[A/G]CCAATTTCTTACTTT | 4867 |
rs547336100 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163792 | CAGCCTCCCCAGGAG[C/G]TGGGACTACAGACAT | 4867 |
rs547352656 | snp | A/G | 1.6819e-05 | 0.00289987 | stop-gained | NPHP1 | GRCh38.p7 | 2:110131733 | CTCCAAGAATTTGTC[A/G]ATAAAATATCAACAA | 4867 |
rs547398202 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143773 | CAAGAGTCATCCATA[C/T]ACCCTAAATGAGCTG | 4867 |
rs547408871 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181992 | TTTATAATGCAATCA[A/C]AAGTATCAATAGCAG | 4867 |
rs547460894 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150424 | TTTCTTTTTATATCA[C/G]GTATGACATAAATGA | 4867 |
rs547466223 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132568 | CCAAGGCAGAAGAAT[C/T]CCTTGAGCCTGGGCG | 4867 |
rs547548231 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180283 | GACAGGTCCAGAGTT[G/T]TATTTATTCCACAGA | 4867 |
rs547557008 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181155 | GCAGTTCCAAGTTAC[C/T]GGGGCAGGGGTGGCT | 4867 |
rs547665585 | in-del | -/TCCTCTGCATCTTCT | | | cds-indel | NPHP1 | GRCh38.p7 | 2:110169915 | TTCTCTTCCTCTTCC[-/TCCTCTGCATCTTCT]TCCTCCCCACCACTG | 4867 |
rs547701501 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130382 | TAAACTTCTTACCTA[C/T]TGGGAAAACTAACAA | 4867 |
rs547752691 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128218 | GGTGCATATGGCCTA[A/G]TTTTTATCAGCAGGA | 4867 |
rs547765890 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147636 | GGATGCCAGTGAGCA[A/T]CTTTTCTCACTTTCT | 4867 |
rs547775010 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148443 | TTATAAATTAACCAG[C/T]CTCATGCATTTCTTT | 4867 |
rs547802030 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186295 | CCTAAACAAGGAAGG[A/G]GTGTTGGAGAGCCAG | 4867 |
rs547843289 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136852 | TGGAACCAAAAAAGA[A/G]CCCGCATTGCCAAGT | 4867 |
rs547865694 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174733 | GCTGAACATGGTGAC[A/G]CCTGCCTTTTTTTTT | 4867 |
rs547880094 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144690 | TTTATGCCTCGTTGG[G/T]AAATGAAAAGAATAA | 4867 |
rs547921180 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198485 | TGATTACGTTTAGAT[A/T]TAGTTGGGGTTCTTT | 4867 |
rs547936616 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203984 | AATCATAATAATCAT[C/T]AGCATCCTGTCACAC | 4867 |
rs548009021 | snp | A/G | 0.000798403 | 0.0199641 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110207047 | TGAGGTATTCAGTGT[A/G]CTATAAATGATATGA | 4867 |
rs548035658 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133596 | TTTTTCTCAAGTGCA[C/T]ATGACATATTCTCCA | 4867 |
rs548175641 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136086 | CCACATGATTATCTC[A/C]ATAGATGCAGAAAAG | 4867 |
rs548191829 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178090 | GGAGAACAATGCAAG[C/T]AGACATTCCAAATCA | 4867 |
rs548280009 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176090 | AGATTTCGCTCTATT[A/C]ATCTTATCAATCTTT | 4867 |
rs548426077 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151271 | GTTCAGATACAGTTA[C/T]ATTTTTCCTCAAGAT | 4867 |
rs548447451 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182884 | GATCCATCGGTATGC[C/T]GTCTTCAAGAGATCC | 4867 |
rs548461180 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143974 | GCAGAGGTGGCATGT[C/G]TTGAATCACCAAACA | 4867 |
rs548481301 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195763 | AAACTGTACTACAAG[C/G]CTACAGTAACCAAAA | 4867 |
rs548601234 | in-del | -/GGAATTGAG | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129768 | AAACTGGAAGAATTA[-/GGAATTGAG]GGAATTGAGGATTCT | 4867 |
rs548662698 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158390 | TATTACTGAGAGAGA[A/G]GTGTTAAACTCCCCA | 4867 |
rs548684868 | snp | A/G | 0.00220976 | 0.0331662 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169890 | CCATTTGTGAGATTC[A/G]TTTTCCTCTTTCTCT | 4867 |
rs548768019 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134159 | ATCAGAAATGAAAGA[G/T]GGGATATTACTATTG | 4867 |
rs548791593 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193911 | CCGGAATGACTACTG[C/G]ATACATAACGAAATG | 4867 |
rs548874090 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178126 | CTTTTACACATCAAC[A/G]TTGACATTAAATATA | 4867 |
rs548878781 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134959 | CACTTTTACTCAACA[C/T]AATAATGGAAATATT | 4867 |
rs548927867 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155469 | CCAACAGCTTGCACC[A/G]TGCTGCTGGAAAAGC | 4867 |
rs548934918 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191241 | CCCGGGAAGCACAAG[C/G]GACAAGGGAATTCCC | 4867 |
rs548969841 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150801 | GTGATCTGCCTGCCT[C/T]GGCCTCCCAAAGTGC | 4867 |
rs548989307 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154141 | GGGTCTTTCCTGCGC[C/T]GTTCTTGTGATAGTG | 4867 |
rs549014568 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196705 | AAGACCCATGCACAC[A/G]TATGTTTATTGTGGC | 4867 |
rs549024542 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163553 | TCACACATACAAGGA[C/T]GTACTTATAAGTAAT | 4867 |
rs549056153 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155686 | GACTTGCATGGGGCC[C/T]GTAGCCTCTTTGTTT | 4867 |
rs549060966 | snp | C/T | 4.9489e-05 | 0.00497414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146745 | TTAGGAATATATAGC[C/T]AACTTACTTTGCTGG | 4867 |
rs549101684 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154884 | CACATTTTCTGAGGA[A/G]AAATTCAAGCCGGCT | 4867 |
rs549144373 | in-del | -/ACAT | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139232 | CACACACACACACAC[-/ACAT]GCAACCTACTTCTCC | 4867 |
rs549151646 | in-del | -/TGTG | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185269 | TTGTGAGGAATTGCC[-/TGTG]TGTGTGAGTGCATGT | 4867 |
rs549186300 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148526 | ATAGTTTATGCCTTT[C/G]CATTATAATAAAAGC | 4867 |
rs549228794 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198298 | ACACATTATGAAATT[C/T]TGCTGATGAAAAGAC | 4867 |
rs549229355 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177982 | CTGGCCTCAAGTGAT[A/C]CTCCTGCCTCAGCCT | 4867 |
rs549241848 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131464 | TGAAATGTGAAAATA[C/T]ATATGTTTGAAAGAA | 4867 |
rs549310697 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143470 | TAAATATGAGGAAAA[A/G]CCAAAAGCAGAGATG | 4867 |
rs549313015 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197438 | TTCCCACCCTTCCTC[C/T]TTGCTGGCAGTCAGC | 4867 |
rs549352705 | snp | A/G | 0.00119737 | 0.0244387 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206781 | ACAATAAGGAAAGGT[A/G]CAAAAAAAGTGTATT | 4867 |
rs549373989 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161381 | GTATTATTTCCTTTC[C/T]AACAATGAGAGAAGA | 4867 |
rs549454047 | snp | C/G | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137923 | AAGACTTGGAACCAA[C/G]CCAAATGTCCAACAA | 4867 |
rs549459303 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168240 | CTCATTGTGAGATCA[C/T]GTTCCAGGGCTCACA | 4867 |
rs549474606 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190875 | TATAAGAAAAAAAAA[A/C]CCCATTAAAAAGTGA | 4867 |
rs549501858 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151020 | AAAACACAAAAATCA[C/G]CTGGGTGTGGTGGTG | 4867 |
rs549501975 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141944 | TGCCACTGCACTCCA[G/T]CCTGGGGGACAGAGC | 4867 |
rs549540313 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167581 | CTGTTCCTGAGTTGC[A/G]TCCTTTATAATAAAC | 4867 |
rs549584607 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176929 | AGGAGACCTTTCAGA[C/T]TGCTGGAGTTGTTTC | 4867 |
rs549618630 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188978 | GAACCCCTTCCATAC[A/G]CCATATACAAAAATT | 4867 |
rs549736636 | snp | G/T | 3.29457e-05 | 0.00405854 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123993 | GGGGGTAGGCGTGTG[G/T]AGTGGAGAAGTGGGA | 4867 |
rs549798201 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202879 | AGATTTCCCAAACAA[C/T]GTAAAACAGAACTAT | 4867 |
rs549817888 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189391 | GCTGCAGACCTTCAC[A/G]GTGAGTGTTACAGCT | 4867 |
rs549836939 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202372 | TACAAAATTCACACA[A/C]CTAGTGATAGAGCCA | 4867 |
rs549852463 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157041 | CGGCCTCCCAAAGTG[C/T]GGGGATTACAGGCGT | 4867 |
rs549854996 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194917 | AAAACCACATGATTA[C/T]CTCAATAGATGCAGA | 4867 |
rs549928313 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198821 | TCTAACAGTAGAAAA[A/G]CCCATGAGAGCTCTC | 4867 |
rs549985493 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172995 | GACGGTGTCTCATTC[C/T]GTCACCAGGCTGGAG | 4867 |
rs549994948 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199306 | GAGTGTGATGGCGTG[A/G]GCCTGTAATCCCAGC | 4867 |
rs550020456 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182131 | TAGAGAAATATGGGA[C/T]TATGTATACAGACCA | 4867 |
rs550121413 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133396 | ATCAGTGCTCCTAAA[C/T]ATATGAAGCAAACAC | 4867 |
rs550156239 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141088 | GCTCTTCCTTCCCCC[C/T]CTTGGCCTTGTGCCT | 4867 |
rs550224724 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192612 | AGGAGAACTTCCCCA[A/G]TCTAGCAAGGCAGGC | 4867 |
rs550280091 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129702 | TTCCAGGCCACCAGC[A/G]CTCAGGGAAGGACCC | 4867 |
rs550289489 | snp | A/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184839 | AGATTGGTCCTTCCC[A/T]ATTCCGGGCCCCTGA | 4867 |
rs550355937 | snp | G/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196472 | ACCATCTCACACCAG[G/T]TAGAATGGCGATCAT | 4867 |
rs550356330 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160982 | GACCAGCCTGGCAAC[A/G]TGGCAAAACCCCATC | 4867 |
rs550408113 | snp | A/G | 0.0360663 | 0.129354 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168405 | TGTTTTATTAAAAGC[A/G]AAAAAAAAAAAAGTC | 4867 |
rs550562472 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129009 | GTCAGGGAAGGCAGC[C/T]CTTGGGAATTTATGC | 4867 |
rs550569918 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190837 | TGAATGTCTAATATC[C/G]AGAGTCTAAAAATAA | 4867 |
rs550574331 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176229 | AGATTTTTGAGTCTA[C/T]ATGTTGAATCAGATT | 4867 |
rs550605011 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137556 | AGACATTTATGCAGC[A/C]AAAAAACACATGAAA | 4867 |
rs550617112 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132899 | CACAAAGAAAATAAC[C/T]ATAGAATATTTTCAA | 4867 |
rs550620543 | in-del | -/CCTTTCTTTTGTAATTTGC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156423 | TGTAAGTCCAATAAA[-/CCTTTCTTTTGTAATTTGC]CCTTTCTTGGGTATG | 4867 |
rs550722283 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191856 | CTGTTCACCAATATT[C/T]GCTGTTCTGCAGCCT | 4867 |
rs550737838 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177105 | TATTCCCAGGGAAAA[C/G]GTCTAGGTGAATGTA | 4867 |
rs550756565 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160071 | ATGGAAAAGAATCTA[A/T]GGGAATGTTTCTCCA | 4867 |
rs550817249 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144135 | TAGTAAAAGATGCTC[A/G]ATATTTCTAGAGGGC | 4867 |
rs550819553 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184309 | TCAAGGACTGGAACG[A/T]CATGGAACACATCTG | 4867 |
rs550832851 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174682 | CACAAAGCAGCAAAA[A/C]ATTTGAGTTGTCTGG | 4867 |
rs550852273 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136905 | AGCTGGAGGCATCAC[A/G]CTACCTGACTTCAAA | 4867 |
rs550860582 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190542 | CTGGCCCACAAGCAC[C/T]GTGTGCAGGCCCGGT | 4867 |
rs550929376 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144927 | AAATGTGTTAAATCA[G/T]TATTTGAAATGAGGC | 4867 |
rs550939233 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174151 | TCTATCTCTTCTAAA[C/T]AGTATATATTTGGGT | 4867 |
rs550947030 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166061 | ATGACACTTTTTTTG[C/T]TGGTCATATTGGCAA | 4867 |
rs551054363 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152271 | CCAGCTTGGGCAGCA[C/T]AGTGAAACCTTGGCT | 4867 |
rs551086296 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200323 | AATCCCAGCACTTTG[G/T]GAGGCCAAGGCTGGG | 4867 |
rs551099909 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159328 | TCTCCTTCATCTGTT[C/T]CTTGGAAGAATTTGT | 4867 |
rs551110231 | in-del | -/A | 0.441158 | 0.161117 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141972 | GCCAGACTCTGTCTC[-/A]AAAAAAAAAAAAAAA | 4867 |
rs551126363 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127002 | GGTCACTATTACCTC[A/G]CCAAGATCCACTTCC | 4867 |
rs551178326 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148728 | TAGTTTATAGACATT[A/G]TAAGATATTTATATT | 4867 |
rs551216924 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156283 | GGTGAATGATTCTCA[C/T]GAGATCTGATGGTTT | 4867 |
rs551261616 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123031 | ATTAACTGGGCTAAT[A/G]AGAAATGCTCAGACA | 4867 |
rs551265692 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178964 | ATAATTAGGTTTTCA[A/C]ACAGTCTAAGTTGAA | 4867 |
rs551298267 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131606 | AGAAACAGAAGATAC[A/G]AGATGGTATAGGTTA | 4867 |
rs551301698 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143696 | TACTTGAGACAGTGA[A/G]TATAATAAAACAAGT | 4867 |
rs551303655 | snp | C/T | 4.94735e-05 | 0.00497336 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170039 | CTACTTGAAATAATA[C/T]ACAAGAACAGACCAG | 4867 |
rs551459047 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139195 | AGGATAATGAATTTA[C/T]AGCAAATTTACACAC | 4867 |
rs551555627 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186149 | ACCATTTGAAATTGG[C/T]AGCTATACTCAAAGA | 4867 |
rs551696288 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180122 | ACTCCACTTAAAGAA[A/G]GAGAAGTTCTACATA | 4867 |
rs551794179 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198969 | AACTAATTAAAAGGA[A/G]TCTGAGCCCAGAGAA | 4867 |
rs551816186 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162236 | TAGTTTACAGTTGAA[C/T]GGGAGGAAAATTTTC | 4867 |
rs551833486 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135930 | CAGCAATGGATTCCA[C/T]GAGTAATTAAGCTTC | 4867 |
rs551835210 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198433 | ATGTTAAAGCAATCT[A/G]AGGTCTTTATATTAG | 4867 |
rs551850818 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143829 | TGTTTGCTAAATCAC[A/G]TGAGTTACAGCATTA | 4867 |
rs551852195 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131026 | GGTACTCAGTACATA[A/T]CTGGTTACTGATTTA | 4867 |
rs551862916 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185483 | GGCTGCAGGGAACTC[C/T]GTTTACTACCACGGG | 4867 |
rs551912245 | snp | A/G | 0.00119737 | 0.0244387 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206003 | CTTTTTTTGTACTAT[A/G]CAATGAAATTATGCA | 4867 |
rs551913124 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191997 | ACATCCACACCAAAA[A/C]CCCATCTGTACATCA | 4867 |
rs551962818 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127132 | CCTTTGAAGCAAAGG[C/T]AGTGAAAGCCCAAGA | 4867 |
rs552008015 | in-del | -/TAAATTTCTTTCATAAAG | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157193 | TTTGGAAATCTCACA[-/TAAATTTCTTTCATAAAG]TAAATTTCTTTCATA | 4867 |
rs552021379 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168853 | TTTAAGGCCCCATAC[A/T]TATTCCAAAAATTCA | 4867 |
rs552080401 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154228 | CTCTTCTCTTGTCTG[C/T]CACCATTTGAGAGGT | 4867 |
rs552201214 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189416 | ACAGCTCTTAAGGCG[A/G]CACGTCTGGAGTTGT | 4867 |
rs552201545 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195660 | AAAAAACTACTTTAA[A/G]TTCATATGGAACCAA | 4867 |
rs552213328 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183851 | AAACAACAAAATATG[C/T]ATTCTACTCATCACC | 4867 |
rs552238402 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194931 | ATCTCAATAGATGCA[C/G]AAAAGGCCTTTGACA | 4867 |
rs552320261 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126948 | ATAGTAGGATGTTTC[A/G]CTTAGAGTAACTCAT | 4867 |
rs552388520 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192689 | TCGAGAAGAGCAACT[C/G]CAAGACACATAATTG | 4867 |
rs552468913 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203008 | TCACAATAGCAAAGA[C/T]ATGGAATCAACATAG | 4867 |
rs552495458 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125903 | CCGTAGAAGCCCATG[A/C]TAATTATAAATCAAA | 4867 |
rs552532069 | snp | G/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196586 | TCAACCATTGTGGAA[G/T]TCAGTGTGGCGATTC | 4867 |
rs552560059 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181518 | GCAATTAGGGTCTGG[C/G]GTACAGCAAACCACA | 4867 |
rs552566656 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199975 | AAAAATAATTATTAG[A/G]GGCCGGGCGCGGTGG | 4867 |
rs552597848 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110164924 | TCTTTAAGCAGACAA[C/T]AGTATGAAAAGCTCT | 4867 |
rs552606822 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129656 | AAGCATTGGGGGGAA[A/G]GGAGACAGAGGACCT | 4867 |
rs552641928 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134089 | TCTGTTCTTTGAAAA[C/G]ATGAACAAAATTGAC | 4867 |
rs552745762 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154438 | ATATGGAAGCAACTT[C/T]GGAACTGGGTAACAG | 4867 |
rs552747776 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125099 | GTAGTGTGACAGAGA[C/G]CACAAGACCTGAAAA | 4867 |
rs552768837 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141306 | TATTGTGTTAGTTAC[C/T]ATGTGCCACACACTG | 4867 |
rs552808412 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188751 | CTTCAAACTATATTA[C/T]AAGGCTACAGTAACT | 4867 |
rs552858451 | snp | A/C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199015 | GAGAACAGAAGAGAA[A/C/T]TTAAGGAGAAAAAAA | 4867 |
rs552860697 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161499 | ATCATAAACAATTTT[C/T]TTGTTTTTTATAATT | 4867 |
rs552880364 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184472 | GCCTGCTATTTTCAT[C/G]TCCATGTAAGCTGTG | 4867 |
rs552900261 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195990 | CTTCCTTACACCTTA[C/T]ACAAAAATTAATTCA | 4867 |
rs552902292 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189605 | GAAGGGGACCCAAGC[A/G]GGTTGCCATTGCTGG | 4867 |
rs552987562 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165946 | ATCAATAAAGAAAAC[C/T]GAAAGTGCCATTCGC | 4867 |
rs552990221 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195329 | AGGATACAAAGTCAA[C/T]GTGCAAAAATCACAA | 4867 |
rs552991787 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145262 | AATTCTGCTCCTCAG[A/T]GGCAACTTCTGGGAA | 4867 |
rs553003273 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176308 | TAGAATGTTCATTTG[A/T]TTTTTCTATATTTGA | 4867 |
rs553079573 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153758 | AGGCCAAGGCAGGTG[G/T]ATCACCTGAGGTCAG | 4867 |
rs553109570 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152521 | CATGGGGTAGCAAGG[A/G]GCTGGATTTGTATGC | 4867 |
rs553129308 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157929 | TCTTTTCTAACATAA[A/G]CATCTAGTGCTATAA | 4867 |
rs553208226 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128462 | GCCTCAAACGTCTGC[C/T]CATGCTAAGCCTTCT | 4867 |
rs553221860 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144233 | TTAGTCACAAGTATC[A/G]GTTCAGTGGTCAATG | 4867 |
rs553277484 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167783 | CTGAGCCTTTAACCT[A/G]TGGGGGTCTGTGCTA | 4867 |
rs553305441 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190026 | TGGTGCATTCACAAA[C/T]ACTGAGCTAGACACA | 4867 |
rs553306948 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186541 | TTTAGCCCAGGTGGT[A/G]CAAAGCTGGGGCCAG | 4867 |
rs553342588 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153585 | AGTAGACTGTGGTAA[A/G]CTATGCATGTATAAA | 4867 |
rs553466588 | snp | C/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187293 | CTAATAAAGAAAAGA[C/G]AGAAGAATCAAATAA | 4867 |
rs553479893 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141240 | CTGGCTTTATGTTTA[C/T]ATTTATCTATATATA | 4867 |
rs553495580 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136301 | CACTCCTATTCAACA[C/T]AGTGTTGGAAGTTCC | 4867 |
rs553511262 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187548 | TTACCAACCAAAACA[C/T]TCCCAGGACCAGATG | 4867 |
rs553584876 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151677 | CTTCGATTGCTAATA[C/T]ATATATGTTTAAACT | 4867 |
rs553698119 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155921 | TAGGTTTGGAAATGT[G/T]AGGACATGAGATTTG | 4867 |
rs553864376 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140424 | AGGACACAGGACCTT[G/T]AAGAACCCAGCATAC | 4867 |
rs553987987 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136130 | TTCAACATCCCTTCA[C/T]GCTAAAAACTCTCAA | 4867 |
rs554024174 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134531 | AACAATACTACAAGA[-/A]AAAAAAAAAAAAAAC | 4867 |
rs554034920 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138695 | CTGCCCTTTGGTCCA[C/T]GGTCCCATTGCACAG | 4867 |
rs554037107 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130303 | AGAGAAAAATTCATT[C/T]TTTAGATATTATTAG | 4867 |
rs554109856 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197570 | CCATTTTATCCTCCC[A/T]TACCAGGCATGAAAA | 4867 |
rs554131103 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132384 | TGTGGGCTGGGCATG[C/G]TGGCTCACACCTGTA | 4867 |
rs554151328 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127374 | AATACACTATGCCAC[A/G]GAGAGAAGAAGGCTC | 4867 |
rs554160314 | snp | A/C | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134542 | CAAGAAAAAAAAAAA[A/C]AAACTACAGGCCAAT | 4867 |
rs554167743 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134861 | CCATATATGAAAAGC[C/T]CACAGCTAACATCAT | 4867 |
rs554212789 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158741 | GACTATCTTTTTATA[C/T]TTCTAGTGGTTTTTG | 4867 |
rs554213270 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170100 | TATCCCATATTTGGA[A/G]CTGGCAAATAAAAGA | 4867 |
rs554299759 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131422 | TATGACTATATCTGA[C/T]TCTTGGGATCTCAAA | 4867 |
rs554338707 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167015 | ACTCAATATTTTTAA[A/G]TATTGATATGTCAAA | 4867 |
rs554478692 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146896 | AAATTTATAAGCACA[C/T]ACCAAGTCCTTTTAA | 4867 |
rs554546377 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174153 | TATCTCTTCTAAATA[A/G]TATATATTTGGGTTA | 4867 |
rs554561803 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135353 | GTGTTGGCAGGCGCC[C/T]GTAGTCCCAGCTACT | 4867 |
rs554602365 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143312 | CAAGTCTTCTATTTA[C/T]TAGATGGCTCAAATA | 4867 |
rs554632924 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201662 | TAGAAAAAACATTAA[C/T]ATTATACTATACTTA | 4867 |
rs554656576 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166308 | GGCTTGATGACAACA[C/T]AAGTTGCTGGCTGGC | 4867 |
rs554759994 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189253 | AATGAAGCCGTGGAC[A/C]CTCGCAGTGAGTGTT | 4867 |
rs554768994 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142225 | TGTAGTATATCTATC[A/G]AAGGGAATTCAGATG | 4867 |
rs554770642 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188107 | TTGAAAACAGGCACA[A/C]GACAAGGATGCCCTC | 4867 |
rs554791828 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194240 | TTTTGAAAAGATCAA[A/C]AAAATTGATAAACCG | 4867 |
rs554799765 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171421 | TCATTAACTATAAAA[C/T]TAGTCAACTACAAGA | 4867 |
rs554920277 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189463 | GCTCATGGTCTCGCT[A/G]ACTTCAGGAGTGAAG | 4867 |
rs554924287 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182532 | CCAGAATTTCAAATC[C/T]GGCCAAACTAAGCTT | 4867 |
rs554990320 | snp | A/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206327 | CTAATTTATACCCTA[A/T]CAGCAGTGTATGAGT | 4867 |
rs555058776 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150628 | GATCTAGGCTCACTG[C/G]AACCTCCGCCTCCCA | 4867 |
rs555124973 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146606 | ATGCTGTTTTCATAC[A/G]CTGCCTAAACAACAC | 4867 |
rs555137189 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177326 | CTACCACCTTCAGCA[A/T]TTTTTCCCAGGATAC | 4867 |
rs555144754 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149723 | ACTATAAAAACAACA[C/T]GAAGACATCTTTGTC | 4867 |
rs555149051 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157822 | ACTCTGATAACTTCC[C/T]TTACATTAACTCATT | 4867 |
rs555175821 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176531 | CTGGTTGCTGTGATG[A/G]ACACATTACATGACT | 4867 |
rs555260267 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145230 | AGAGCCCTTTAATTG[A/T]AATGCACCACCTCCT | 4867 |
rs555324078 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162389 | AGGCAGAATTTACCG[C/T]GAGACCTGAAGGATG | 4867 |
rs555350998 | in-del | -/CTAA | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164836 | GTAAGTTTTGAAAAT[-/CTAA]CAGTTTCCAGATGAA | 4867 |
rs555384133 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154563 | AAAAATGCTGATAGT[A/G]ATATGAACAATAAGG | 4867 |
rs555459093 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184523 | CAGGACCACGGGGGT[A/G]GTGCTGGATTCTGGG | 4867 |
rs555463526 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146998 | ATCTCATTTTGCCTG[C/T]GGGTCAGATATTAAA | 4867 |
rs555468187 | in-del | -/GTT | 0.00279162 | 0.0372561 | utr-variant-3-prime, cds-indel | NPHP1 | GRCh38.p7 | 2:110123453 | TTTCCCATTCTGTAG[-/GTT]GTTTTTTTCACTTTC | 4867 |
rs555519379 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196832 | TGCAGCCATAAAAAA[G/T]GATGAGTTCATGTCC | 4867 |
rs555522936 | snp | A/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159480 | AGGTTATTCACATTT[A/T]CTATTTCTTCTTATG | 4867 |
rs555534181 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167851 | GACACCGGTTGGTGT[A/G]GAAGAACTGATGTAA | 4867 |
rs555598265 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153586 | GTAGACTGTGGTAAG[C/T]TATGCATGTATAAAC | 4867 |
rs555613380 | snp | A/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137182 | ATTAATTCAAGATGG[A/T]TTAAAGACTTAAATG | 4867 |
rs555668229 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184161 | CACAAATACTGCTTT[A/C]CAAAGTATGTGGGCC | 4867 |
rs555689175 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152707 | AGCAGAACCATGTCA[A/C]CAAGTGGGCCTTTTA | 4867 |
rs555745167 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180658 | GACAAGGCAAACACC[G/T]TGACCCATGAGAATG | 4867 |
rs555753154 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136494 | AGGGTACAAAATCCA[A/C]GTGCAAAAATCACAA | 4867 |
rs555762534 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141416 | TCCATTTTAAAGATG[C/T]AGACATTAAGACCCT | 4867 |
rs555784069 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142017 | AAAATGAAAACAGTT[C/T]GGCAGTTTCTTATAA | 4867 |
rs555807651 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182291 | ATCCAGAGAACCCCA[G/T]TAAGGTACTCCATGA | 4867 |
rs555809293 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172643 | AAAAATTTGCCAAGC[A/G]TAGTGGCACACGCCT | 4867 |
rs555832897 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206405 | GTAATTCATGTCTTA[C/T]TTTGAATTAATTTCT | 4867 |
rs555846087 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181909 | AAACCAATACAGGAG[C/G]TGATAGCCAGAACAG | 4867 |
rs555955303 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204317 | TTTGCAATTACTTGA[C/G]TATCTTTGAAGTTAA | 4867 |
rs555982997 | snp | C/T | 1.66181e-05 | 0.00288249 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144481 | AAGGAAGACAACACA[C/T]GAGAGCCATACCTCT | 4867 |
rs556045940 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196141 | ATGGCAACAAAAGCC[A/G]AAATTGACAAATGGG | 4867 |
rs556073870 | snp | C/T | 1.72886e-05 | 0.00294007 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204991 | GCTGCGGTGCTCTGA[C/T]TGCTCCAGTTGCCAG | 4867 |
rs556119986 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188241 | ATCCCTGTTTGCAGA[A/T]GACATGATCCTATAT | 4867 |
rs556205242 | snp | A/C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192883 | AAGAATTTTCAACCC[A/C/T]GAATTTCATATCCAG | 4867 |
rs556211610 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156140 | GTAGTGACATGATCT[C/T]GGCTCACTGCAACCT | 4867 |
rs556257940 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133832 | AATATCTTGAGAAAT[G/T]AAATGAAAACACAAC | 4867 |
rs556377506 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110136457 | ATCTCCTTAAGCTGA[C/T]AGGCAACTTCAGCAA | 4867 |
rs556379423 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179599 | GAAGAGATGTTTTAA[A/T]AATGTGATTAACCTC | 4867 |
rs556390933 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163368 | CAGAGCTGTGTGTTC[C/T]GGAGCAGCTGCTTCA | 4867 |
rs556701858 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171290 | CTGTGTGACAGACAC[C/T]ATGTGCTTGGGCTAT | 4867 |
rs556735153 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160698 | TCCTTAGTTTCTTAA[C/T]AGGTGTTTTAACAGA | 4867 |
rs556742605 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176024 | CATATTGTATTTTTT[C/T]AGTTCCAGAATTTTC | 4867 |
rs556789699 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185766 | AGACTGGAAAGTCAG[A/G]AGGGAGCAGGAAGCC | 4867 |
rs556813753 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131918 | AACACATTTTTAACT[A/G]TTTAAAGAAAAATTT | 4867 |
rs556822004 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186363 | TGCCTTTTGCCACTA[C/T]AGCTGACCAGGCAAC | 4867 |
rs556852389 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139425 | GCATCTATTTGCTCT[C/T]TTTTTCTTATGTTGA | 4867 |
rs556863480 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179426 | AAGCTGAACATTTTT[C/T]GGTAGTTGGAGCCCT | 4867 |
rs556897008 | snp | A/C | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194375 | CAGAGAATACTATAA[A/C]CACCTCTATGCAAAT | 4867 |
rs556974200 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128266 | TCACCTCCCTCCTGC[A/C]CATGTTCTGCCTCTT | 4867 |
rs556980029 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183973 | AAATGCAATCAAATT[A/G]GAACTCAAGATTAAG | 4867 |
rs557010984 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136193 | TAATAAGAGCTATCT[A/G]TGACAAACGCACAGC | 4867 |
rs557054693 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195065 | CATACTGAATGGGCA[A/C]AAACTGGAAGCATTC | 4867 |
rs557060199 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159585 | TGTTTATAATATCTC[C/T]TTATTGGCCTCTTAA | 4867 |
rs557094055 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158443 | TAATTGTGACTTTGT[C/T]GGTTTCTCTTTTCAG | 4867 |
rs557134424 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167742 | ACTTGTGACTGGCAA[C/T]GGAAGTGAGCAGCAA | 4867 |
rs557153920 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189564 | ATTTATTGCAAACAG[C/T]GAAAGAACAAAGCTT | 4867 |
rs557216941 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180943 | GGAATTTTATATACT[C/G]TGGCCCCAAGATCCC | 4867 |
rs557259095 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175032 | TAAAGTGTCTTTAAA[C/T]AGTAACACAAGGTTG | 4867 |
rs557376251 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151298 | AGATCTCTAGGCCCA[C/T]AAATTATATTTTTAT | 4867 |
rs557379387 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198680 | ACCAGGGTTAGAGCC[A/G]GCCCTATTCTGGCAC | 4867 |
rs557451061 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143448 | AAATATTATAACAAA[A/G]GATGACTAAATATGA | 4867 |
rs557508876 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169134 | CAAACACTTAATTAA[A/G]ATATACATTATTGTC | 4867 |
rs557536864 | snp | A/T | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151422 | AATTCAAATTCTAAA[A/T]TGTTATGGCCAAAAT | 4867 |
rs557586583 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157901 | AAGGAGCTTTGACTG[C/T]AGATTTGAGAATTCT | 4867 |
rs557676859 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165335 | ATGGGAATTTAGTAT[A/G]TATGATGAGCATATA | 4867 |
rs557717851 | in-del | -/T | 0.00130574 | 0.0255179 | intron-variant, frameshift-variant | NPHP1 | GRCh38.p7 | 2:110125284 | GTACAGCTCAGGCCA[-/T]TTTTTTTTTCCCTTC | 4867 |
rs557723347 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155172 | GGTGCAAGCCCAAAC[C/T]CTTGGCAGCTTCCAT | 4867 |
rs557730991 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137997 | ATACTATGCAGCCAT[A/G]AAAAATGATGAGTTC | 4867 |
rs557809695 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162667 | GAGAAAAGGAGGTTT[C/T]GGCTAGAATGGGATA | 4867 |
rs557833078 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177507 | CATCAAAATAACACT[C/G]CAAGGAAATGCTCAT | 4867 |
rs557870878 | in-del | -/T | 0.111928 | 0.208413 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152289 | GAAACCTTGGCTCTA[-/T]TTTTTTTTTTTCTAA | 4867 |
rs557875308 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139513 | AGGACTCTGGTGCCA[C/G]TGGTCTACACCGAAT | 4867 |
rs557901301 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190968 | CATGCCAGTCAGAAC[A/G]GTGATTATTAAAAAG | 4867 |
rs557909940 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161934 | TTTAAGAAAGACTTT[C/T]AGGCCAATAATATGC | 4867 |
rs557921317 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149034 | TACAATCTGCCTGAG[C/T]GGTAGTTACCAACAG | 4867 |
rs558017524 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137317 | ACCAAAGCCAAAATT[A/G]ACAAATGGGATCTAA | 4867 |
rs558019735 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145946 | GAGGCCACATAAGGC[A/G]CATTATCTAAATTAA | 4867 |
rs558058223 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145131 | AAACACGGTGAATTT[A/C]AAAACTAACACATGC | 4867 |
rs558083275 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153704 | ATGTTCAAGTGGGGC[A/G]GGTGCGGTAGCTCAC | 4867 |
rs558113689 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166408 | CATTTCCCAAGACTT[C/T]CTTGCAGCTAACTGT | 4867 |
rs558131948 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134381 | AAAGCCCAGCATCAG[A/T]TGGCTTCACTGGAGA | 4867 |
rs558134879 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129324 | ATTTTATTGCAATAG[A/G]CACAAAAATATTCAG | 4867 |
rs558151599 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146248 | TTTTTGAGAGTTCCT[G/T]TTATATTAGGGATAA | 4867 |
rs558152251 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170681 | AGTGCAATAGGTACT[A/G]GAGTAGAGGTATACA | 4867 |
rs558167850 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184599 | CCCCACTCCATCATG[C/T]GAATTGACATCGCAA | 4867 |
rs558168551 | snp | A/C | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182695 | TATAAAAACACACTG[A/C]AGTACACAGACCAGT | 4867 |
rs558256300 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204200 | TTCCTGAAATGCTGT[A/T]CAAGCACCTTATACA | 4867 |
rs558271493 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125390 | TTGGCTTAGAAACTT[C/T]CCCTTTATTTAAATA | 4867 |
rs558306271 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182002 | AATCACAAGTATCAA[C/T]AGCAGAATAGACAAG | 4867 |
rs558338383 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197633 | GGGTATGGACTTTGT[A/G]ACCATGAGGAGAGAC | 4867 |
rs558417286 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142118 | CCACATGCAGAAAAT[G/T]TGTACACAAATGTTT | 4867 |
rs558439115 | snp | A/C | 0.000399281 | 0.0141238 | utr-variant-5-prime, upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205059 | ATGTGCGCCCGCCTC[A/C]CAGCCCCGCCCCGCC | 4867 |
rs558511957 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197512 | TGAGCAGGGGGCCCA[C/T]GGCTGCCAGTGTAAC | 4867 |
rs558512708 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182466 | AACCCTATAAGCCAG[C/T]AGAGACTGGGGACCA | 4867 |
rs558621114 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173407 | CAGATGCACTGAAAA[A/G]AATATGTATTTACAT | 4867 |
rs558650327 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170250 | AGGCCAGGAGACTCC[A/G]AATTCAAGTCTTGGA | 4867 |
rs558736616 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193710 | AGAATATACATTATT[C/T]TCAGCACCACACCAC | 4867 |
rs558755583 | snp | A/G | 7.87448e-05 | 0.00627425 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201533 | ACATTATTAAATACC[A/G]TATCGCCTTAGGAAA | 4867 |
rs558760191 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200970 | TAATACAAATGTTAT[G/T]AATTAATAGTCTAAA | 4867 |
rs558848913 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123305 | AAGTATCAGACTGAA[C/T]TAAGTGATACAACTT | 4867 |
rs558873032 | snp | C/G | 2.16326e-05 | 0.00328874 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110179656 | GAGCATTTTTATTTT[C/G]ATCTATTGCCTGCTT | 4867 |
rs558904901 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124206 | TCTGAGCCAGCTGCT[C/G]AGGCAGGACATGGCA | 4867 |
rs558921771 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186498 | GCTAATGGAGCCAGG[C/T]CTGACTCCTAGGAGT | 4867 |
rs558927988 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133337 | ACAATCATAAAACAG[C/T]CAATTCAGAATATAT | 4867 |
rs559012343 | in-del | -/TT | 0.050343 | 0.150456 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172962 | TTCTTTTTCTTTTTC[-/TT]TTTTTTTTTTTTTTT | 4867 |
rs559048138 | in-del | -/AT | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193747 | TCCAAAATTGACCAC[-/AT]AGTTGGAAGTAAAGC | 4867 |
rs559052894 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196260 | AATCTACTCATCTGA[C/G]AAAGGGCTAATATAC | 4867 |
rs559070522 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152967 | TAGATTGAAGAAGCT[A/G]AGCAAACCCCAAGCA | 4867 |
rs559091562 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204490 | CCACTTGAGGAAGGC[C/T]GAAAGGAAATGGGCT | 4867 |
rs559112028 | in-del | -/CTTT | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161376 | ACCTAGTATTATTTC[-/CTTT]CTAACAATGAGAGAA | 4867 |
rs559158015 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132680 | ACAACAACAAATGAA[A/G]TAAGTATGGAGTGCT | 4867 |
rs559180071 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192233 | GAGGAAGTTCGAACC[C/T]GTGGAAAACAAGTTA | 4867 |
rs559180586 | snp | A/G | 1.65669e-05 | 0.00287805 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124089 | ACCACCCCCACAAAT[A/G]ACATTGTTATTTTTA | 4867 |
rs559214775 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158524 | ACCCACTTAGGATTA[C/T]TATGTCTTCTTGGTG | 4867 |
rs559282677 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159863 | CTTTTTCTAGCCTCT[A/T]GATTTGCTAGCTTAG | 4867 |
rs559284852 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143874 | CAAAGGAAAACAGCA[C/T]GTCTGACTCCAGGTA | 4867 |
rs559293914 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170559 | ATGCTGTAGGTCAAG[C/T]TCCGTGTCAGAGAGA | 4867 |
rs559303507 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195748 | ACGCTACCTAACTTC[A/T]AACTGTACTACAAGG | 4867 |
rs559431558 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155341 | CTGCTAGGGAAGTGC[A/G]AAAGGGAAATGTGGG | 4867 |
rs559468924 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190500 | AAGTGCAGAGTCCAC[A/G]GAGCCCACGCCCACC | 4867 |
rs559595917 | snp | A/G | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194502 | ACAGGCTCTGAAATT[A/G]AGGCAATAATTAATA | 4867 |
rs559614835 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183598 | CTTTAATTCCTCTAG[C/T]GCCGCTGGGTTAGGG | 4867 |
rs559623621 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165885 | TTGATTATTACACAA[A/T]CCATACAAGTAAAAA | 4867 |
rs559660308 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159878 | TGATTTGCTAGCTTA[G/T]ATCACTGACTTTAAA | 4867 |
rs559696571 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158936 | CATTTTGCAATTTGA[A/G]GACTCTCCCTTCTAT | 4867 |
rs559737383 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188746 | CCTAACTTCAAACTA[C/T]ATTACAAGGCTACAG | 4867 |
rs559749608 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142511 | GTGTGCATCACCATA[C/T]CCAGCTAATTTTTTT | 4867 |
rs559758604 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186087 | TAGCCTCCAGGGCCC[C/T]GCCTCTCCCTGCTGA | 4867 |
rs559819900 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173744 | TGATGTTTGTACAAT[A/G]ATGAAATCACTTAAT | 4867 |
rs559875700 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150043 | TCAGAAACATGAGTA[A/G]TTTTTATCAATGTCC | 4867 |
rs559884214 | snp | C/T | 0.00517822 | 0.0506191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191228 | AGGCATTGCCTCACC[C/T]GGGAAGCACAAGGGA | 4867 |
rs559914203 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150024 | AATTACTAACATTGG[A/T]GAGTCAGAAACATGA | 4867 |
rs559994028 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191629 | CTCTGCAGACTTAAA[C/T]GTCCCTGTCTGACAG | 4867 |
rs559995973 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185292 | TGAGTGCATGTGTGT[A/T]TACAAGTGTGTGAGC | 4867 |
rs560042861 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134109 | ACAAAATTGACAAAC[C/G]TTTAGTGAGAATGAC | 4867 |
rs560071510 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146701 | TATCAAGAGTCTAAA[A/C]AATGAATTTTTACAG | 4867 |
rs560092455 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198101 | GAAAGAAGGACAACT[A/G]GCCAGCAAGAGATTT | 4867 |
rs560113270 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161287 | AATTATCAAAATAAC[C/T]TTATGTTGGAAGCAT | 4867 |
rs560209816 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131432 | TCTGACTCTTGGGAT[C/T]TCAAAACTCTAGAAT | 4867 |
rs560214464 | snp | A/T | 0.0221141 | 0.102801 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179849 | CTATTAGCTCAGATG[A/T]TCCTCATAGCCAAGC | 4867 |
rs560219120 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154131 | TTATGGGGATGGGTC[C/T]TTCCTGCGCTGTTCT | 4867 |
rs560225229 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162021 | ACTTTTTGGAGACTT[C/T]AGAAAAAACAAAGTC | 4867 |
rs560241197 | in-del | -/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152797 | ATCTGGTTCTGAACT[-/G]GGGTTGGGAGAGGAG | 4867 |
rs560263283 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198827 | AGTAGAAAAGCCCAT[A/G]AGAGCTCTCTGGAAT | 4867 |
rs560293120 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110164771 | GTCAGGTCAGGTTAT[G/T]CCTATTCACTCAATT | 4867 |
rs560321371 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122859 | CGATAAGGCAGAACA[C/T]CTTAGGTTGTAGAAA | 4867 |
rs560332591 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128783 | TACGATTTAACATAA[C/T]ACTCAACAGTTATTT | 4867 |
rs560334392 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137446 | AAAGGGCTAATATAC[A/G]GAATCTACAGTGAAC | 4867 |
rs560354890 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138896 | CTGGCACTTTCTCAC[A/T]ACATGAAGCAATGCT | 4867 |
rs560442934 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147302 | CTTTCCCCAGTCCTA[C/T]CCCCTCCACAATACA | 4867 |
rs560443418 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129460 | ATATCCTGGTGAGTT[C/T]CTGTACCAAATTAAT | 4867 |
rs560447792 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130639 | ACAAGTGCTAAGCCT[C/T]TCACTCACTCTGCTC | 4867 |
rs560656902 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158154 | TTTAATTCCATGTAA[A/T]CAAGGACCATATATT | 4867 |
rs560663707 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205803 | CTACAGACTTTGTGT[A/G]CAGCTCTGAAAACCC | 4867 |
rs560681697 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167369 | TCCAACCTTCAAAGA[G/T]GGGAGAGGAGCTGGA | 4867 |
rs560691160 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202323 | ATTAGTTTCTTCTCT[A/G]CTCTTGCAATTTGGC | 4867 |
rs560709040 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190707 | CCAGGCAGAGGAGGC[A/G]CCAAGAGTGAGCGAG | 4867 |
rs560713328 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184199 | GCATATTCGTATCAT[A/G]GCAGGAGCCCTTGAA | 4867 |
rs560715726 | snp | A/C | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165571 | TCATGATACAAAATC[A/C]AAAATCATAAGTGGA | 4867 |
rs560770760 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124599 | CAGATAAGAATGGTG[C/G]AGCATCAGCTGTACC | 4867 |
rs560800566 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128867 | CCCCTGCAAATTCAA[C/T]TGATTTATCTTACAG | 4867 |
rs560991719 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149484 | GACAAGTCTGGACAG[A/G]CACAGCACACAGTTG | 4867 |
rs561005459 | snp | C/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133281 | ATCAGACAAAATAGA[C/G]TTCAAGCCCCCCAAA | 4867 |
rs561115210 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163913 | TGATCCACCCGCCTT[A/G]GCCTCCCAAAGTGCT | 4867 |
rs561206273 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193787 | GCAAATGTAAAAGAA[A/C]AGAAATTATAACAAA | 4867 |
rs561263548 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203415 | TGAATCTAAAATAAA[A/C]GTTGAAATTTTAAAA | 4867 |
rs561265352 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160993 | CAACGTGGCAAAACC[C/T]CATCTTTACAAAAAA | 4867 |
rs561316767 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149224 | CATGAAAAAGTTTCC[A/T]CGTGCCTAGGAAAAA | 4867 |
rs561397026 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148460 | TCATGCATTTCTTTA[G/T]AGCAATGCAAGAACG | 4867 |
rs561476897 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179530 | TATCACTAACGTAAA[-/C]CCAGGAACTTACCAA | 4867 |
rs561478414 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141015 | TCTTAATAATCTGTG[A/G]GCAATGAGCAGGTCA | 4867 |
rs561514433 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204825 | ATTAGGTGGGGTCAC[C/G]GTGGGAAGGCGCAGT | 4867 |
rs561520328 | in-del | -/A | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195118 | GGGATGCCCTCTCTC[-/A]ACCACTCCTATTCAA | 4867 |
rs561575073 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156207 | CTCAGCCTCCTGAGT[A/T]GCTGGGATTACAGGC | 4867 |
rs561631747 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205710 | ATACAAATGAATGTT[C/G]TTCAGAACAGCCACA | 4867 |
rs561682303 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137511 | CATCAAAAAGTGGGC[A/G]AAGGATATGAACAGA | 4867 |
rs561766798 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167463 | ACCCCTAAATGATGG[A/G]GTTCCAGGAACTTCC | 4867 |
rs561785527 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138134 | AACAATGAGAACACA[C/T]GGACACAGGAAGGGG | 4867 |
rs561786804 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184790 | CTAGAGACAGAGAAG[G/T]CTCAGTACTACCTGC | 4867 |
rs561850863 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130424 | TTTAAGAGGTCACAT[A/C]ATTCATGAAGTTTCT | 4867 |
rs561903844 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189367 | TGGTCTCGCTGGCTC[A/G]GGAGTGAAGCTGCAG | 4867 |
rs561937007 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153850 | TAGCTGGGTGTGGTA[G/T]TGAGCACCTGTAATC | 4867 |
rs561972367 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153176 | AGTTTTCAAGTGTCA[A/C]ACAAAAATAACTGTC | 4867 |
rs562023853 | snp | A/G | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161061 | GCCCCAGCTACTCAG[A/G]AAGCTGAAGTGGGAG | 4867 |
rs562071704 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132582 | TCCCTTGAGCCTGGG[C/T]GGTGGATGTTGCCAT | 4867 |
rs562087133 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127746 | AAGTCACTGCACATC[C/T]CCAAGCTGTCTGCTC | 4867 |
rs562098135 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195417 | CAATTGCTACAAAGA[C/G]AATAAAATACCTAGA | 4867 |
rs562161092 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163508 | GATTTTTTTTGTATA[C/T]ACATACACACTACTC | 4867 |
rs562172596 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180030 | CAAAACTGATAATAG[C/T]ACCTAAAGTTTACTG | 4867 |
rs562197545 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128557 | CTCTCTCATGCAGGA[A/C]CTCTCTAGTGAAACA | 4867 |
rs562204363 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135757 | GGCTGAGAAAAATCA[A/C]CAAAGATTTAAAAAG | 4867 |
rs562216759 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166642 | AAAATACTGGATAGG[A/G]TCTTAACCAATTATT | 4867 |
rs562247172 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171627 | AGGAGATATTTTGCA[C/T]ATATTTTATATGGGT | 4867 |
rs562282050 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177910 | ACCAAGCCTGACTAG[A/T]TTGGGTTTTTTTGTA | 4867 |
rs562295100 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142803 | ATTGAATCTGTACTG[A/G]AGTATAGTGTCTACT | 4867 |
rs562313435 | in-del | -/T | 0.00438332 | 0.0466095 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206238 | CTTCTGGCAAACACA[-/T]TAACACTGCTGAGTC | 4867 |
rs562314902 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203645 | CAGTGAATCTCTTAC[C/T]GGCCTCAGATTATAA | 4867 |
rs562328780 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148223 | TCACCACAGAGAGTT[C/T]GTTCTCAGGAGATCA | 4867 |
rs562350549 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194812 | AGCCTATCCACCATG[A/G]TCAAGTGGGCTTCAT | 4867 |
rs562360547 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184416 | AACCCACAAAGACAC[A/C]AGGAATGAGCTGCCA | 4867 |
rs562446527 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173076 | CGATTCTCCTGCCTC[C/T]GACTCCCGAGTAGCT | 4867 |
rs562452486 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134987 | ATTTTTCTAAAAAAA[G/T]AAAAGTGTCTTTGTT | 4867 |
rs562471839 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185647 | ACTCCGCTATCAATG[C/T]CCCCTGACTGGGCAC | 4867 |
rs562522151 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154899 | GAAATTCAAGCCGGC[C/T]GCAGAAATTCGCATA | 4867 |
rs562589397 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191888 | TGCTGCTGATACCCA[A/G]GCAAACAGCGTCTGG | 4867 |
rs562594554 | snp | A/G | 0.000478126 | 0.0154543 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169869 | GATGTATTCTTCACC[A/G]GTTGACCATTTGTGA | 4867 |
rs562595316 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147442 | ATCAAGCTATTATTA[A/G]TATGTGGAAACATTT | 4867 |
rs562609797 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124407 | GGTAAATATAACTAA[A/G]ACAATGCCAAGTCAG | 4867 |
rs562661597 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192351 | TGGCACAAGAACTAC[A/G]TGACGAATGCACAAG | 4867 |
rs562684397 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155384 | TCACACAGAGTCCCT[C/G]CTGGGGCACCACCTA | 4867 |
rs562713892 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205622 | CCAATTCCAAAACTC[C/T]ACTACACCAAAATTG | 4867 |
rs562718142 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199953 | AAGACTATGGTTACT[C/T]GGGCTTAAAAATAAT | 4867 |
rs562880232 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172682 | AGCTACTCAGGGAGG[C/T]GGAGGTGGAGAGGAT | 4867 |
rs562882103 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206807 | GTATTACTCATTCAC[C/T]TCAGGTGTGAAGATG | 4867 |
rs562882240 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129701 | ATTCCAGGCCACCAG[C/T]GCTCAGGGAAGGACC | 4867 |
rs562925349 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151032 | TCAGCTGGGTGTGGT[A/G]GTGTGTGCCTGTAAT | 4867 |
rs563006057 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162172 | GCCAGATGCTACACC[A/G]GGTTCTAGAAATACA | 4867 |
rs563019762 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132831 | GTTAAGTTGGTATTA[C/G]TTTAAAATAGATTGT | 4867 |
rs563065766 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177797 | TTGCCCAGGCTGTGC[A/G]CTGAGGTGATTATAG | 4867 |
rs563104956 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177063 | TCCCTGCTTGGAATC[C/T]ACCTTCCTCCACCAC | 4867 |
rs563108578 | in-del | -/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170676 | AAATAGTGCAATAGG[-/T]TACTAGAGTAGAGGT | 4867 |
rs563118875 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158846 | TATCTTTGACTTGTT[C/T]CTGGTCTTAGGAAAA | 4867 |
rs563120281 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130343 | TTCTAATGATTAAAT[A/T]CAAATGAAGTCAACA | 4867 |
rs563149687 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145140 | GAATTTCAAAACTAA[C/G]ACATGCTTCAAAACT | 4867 |
rs563165214 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169424 | CAACCAAGCATGGAT[A/G]TAAGCCCCTCTCATA | 4867 |
rs563230892 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201823 | TGAAATGCACAAATA[A/C]GAGGCATACATTTGC | 4867 |
rs563247227 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203762 | CTGGTTGCTATTTAC[A/T]TTTTTCTTATTTTTA | 4867 |
rs563249238 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150669 | ATTCTCCTGCCTCAG[C/G]CTCCCAAGTAGCTGA | 4867 |
rs563276028 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202919 | CAGAAATCCCATTTC[C/T]GTGTATATACCCCCA | 4867 |
rs563325888 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203100 | GCAACCATAAAAAAG[A/G]ATGAAATCATGTCCT | 4867 |
rs563359845 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195537 | AGAACATTCCATGCT[C/G]ATGGGTAGGAAGTAT | 4867 |
rs563542526 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166378 | TGATTTAACAATGAT[C/T]CAGTTAAAAGACTAC | 4867 |
rs563552006 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143178 | TACATTTGTCAAAAC[A/G]CAAAGAATTATAAAC | 4867 |
rs563577059 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165723 | TAAGGATTAATATCC[A/T]GATTATTAAAATATT | 4867 |
rs563653032 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189268 | CCTCGCAGTGAGTGT[C/T]ATAGTTCTTAAAGGC | 4867 |
rs563704416 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181289 | CTACCAAAAAGCAGC[C/T]AGACTGCTTCTTTAA | 4867 |
rs563776657 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191153 | ATCTCACTAGGGACT[A/C]TCAGACAGTGGGTGC | 4867 |
rs563816244 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193378 | TCTGATAAAACAGAC[G/T]TTAAACCAACAAAGA | 4867 |
rs563829434 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134053 | TAGAAAAACAATAGA[A/G]AAAATCAATGAAAGC | 4867 |
rs563877077 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185233 | CTCCACTTTAAAACT[C/T]GCTTTGTTGAGTCAG | 4867 |
rs563886034 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156886 | GGTTCAAGTGATTCT[C/G]CTGCCTCAGCCTCCC | 4867 |
rs564009255 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149320 | CTTCTACCCCAGGAA[A/G]AACATTAAAAAATTC | 4867 |
rs564016527 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190841 | TGTCTAATATCCAGA[A/G]TCTAAAAATAAGCAA | 4867 |
rs564078730 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148182 | TTGGGTCATGAGGGC[A/G]GATCCCTCATGGTTT | 4867 |
rs564088651 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138286 | TGTAACTAACCTGCA[C/T]GTTCTGCACATGTAC | 4867 |
rs564130970 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167526 | TGGAAGGCCCAGAGA[A/G]TGCATGCCAGCCACC | 4867 |
rs564197281 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131323 | AACCAGCTATTTTGG[C/T]TGATTTTGGTTTCTC | 4867 |
rs564202640 | in-del | -/GAAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165761 | CTCTTAGAAATCAAT[-/GAAA]GAGTTTTTTAAATCC | 4867 |
rs564232135 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185944 | CCTTGCTTTCCATCC[A/G]TTCTTGTTGCAATGC | 4867 |
rs564243884 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168126 | TAAGGGGATCACATA[C/T]TTGTGGAAGTTAACA | 4867 |
rs564271405 | snp | A/C | 0.00159617 | 0.0282053 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206572 | TGAGCAAAACGAAAA[A/C]AATTGCTCTAAAATA | 4867 |
rs564304551 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142823 | TAGTGTCTACTGAAC[A/C]GGTTTTGCTTTTGCA | 4867 |
rs564327329 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137776 | GTGTGGTGATTCCTC[A/G]GGGATCTAGAACTAG | 4867 |
rs564473588 | in-del | -/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135176 | AAACCAACAAAACAA[-/T]TTTACAATAGCATCA | 4867 |
rs564487213 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181034 | AAGCAGCATTGTTCC[A/G]TGGGCCCCACTTCCA | 4867 |
rs564575627 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171979 | TTTAATATTGGCACT[A/G]TTTCTTTCTTAAATG | 4867 |
rs564605452 | snp | A/C | 1.64852e-05 | 0.00287094 | splice-donor-variant | NPHP1 | GRCh38.p7 | 2:110160126 | TTCTCAGTAACCTTA[A/C]CTTATTACCATCAAA | 4867 |
rs564614892 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128722 | TTAGGCTAAACCATA[A/T]GAAACTGCCACTTAG | 4867 |
rs564639431 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184092 | ACCAACCAGCCTGTC[A/G]TGATCGACAATGAAT | 4867 |
rs564649671 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164786 | GCCTATTCACTCAAT[C/T]AGGGAACTTCTTTAA | 4867 |
rs564653464 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183684 | TTTTCAAAGTGACTT[A/G]GACTCCCATACAATA | 4867 |
rs564719763 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196203 | AAAAGAAACTACCAT[C/G]AGAGTGAACAGGCAA | 4867 |
rs564732022 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126261 | TGGCAAACTGAATGC[A/G]TGGGTGGAATATGAC | 4867 |
rs564747641 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160490 | AAATACTTAAAAGCT[A/G]TGATGAAAGGAACAA | 4867 |
rs564819345 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156203 | CTGCCTCAGCCTCCT[C/G]AGTAGCTGGGATTAC | 4867 |
rs564864081 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133169 | TCTATAAGAGACTCA[C/T]GGTAGACTTAGGACA | 4867 |
rs564892158 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180129 | TTAAAGAAAGAGAAG[C/T]TCTACATAGCTTCTC | 4867 |
rs564991288 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139966 | CACAGGCTCAGTGAT[A/G]TCCAAAAGGGCCCAG | 4867 |
rs565075530 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191479 | TTGTTAGCCATTGCC[A/G]AGGCTTGAGTAGGTA | 4867 |
rs565082007 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197056 | ACTCCGCATGTTCTC[A/T]CTTATAAGTGGGAGC | 4867 |
rs565208461 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181126 | CAACCAAAGCAGTCT[A/G]GAATCTTTCTGAGGC | 4867 |
rs565259213 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156169 | CTCCACCTCCCAGGT[C/G]CCGGTTCAAGCAATT | 4867 |
rs565404467 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155468 | ACCAACAGCTTGCAC[C/T]GTGCTGCTGGAAAAG | 4867 |
rs565467734 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169689 | TTACTTATTTAAATA[A/G]ATTGTTATAAAACTG | 4867 |
rs565483809 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127254 | CAGCCTGTACCCTTG[C/G]GTGACTGTGGAGCAG | 4867 |
rs565500579 | snp | A/G | 0.000399281 | 0.0141238 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178466 | CAGCAAGGCCCTGCA[A/G]TTGTTGGGTAAGCTT | 4867 |
rs565543920 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163458 | ACAGGTAAGTTAATG[C/T]CTATTGGCAAATCAC | 4867 |
rs565621957 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183873 | CTCATCACCACAAGG[C/T]ACTTACTCTAAAATT | 4867 |
rs565646737 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190097 | AGAGTGCTGATTGGT[A/G]TATTTACAATCCCTT | 4867 |
rs565706847 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148729 | AGTTTATAGACATTA[C/T]AAGATATTTATATTA | 4867 |
rs565720940 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177916 | CCTGACTAGTTTGGG[C/T]TTTTTTGTAGAGATG | 4867 |
rs565750069 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174139 | TGCATACTAAAGTCT[A/G]TCTCTTCTAAATAGT | 4867 |
rs565843168 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151145 | CACTCCAGCCTGAGC[A/G]ATGGAGCAAGATTCA | 4867 |
rs565861465 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150574 | ATTTGTTTAGAGAAG[G/T]AGTCTCGCTCTGTCG | 4867 |
rs565879524 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158343 | TATACAGTTCTCTTA[C/G]ATCCTTACTAATTTT | 4867 |
rs565896445 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173077 | GATTCTCCTGCCTCC[A/G]ACTCCCGAGTAGCTG | 4867 |
rs565920465 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157773 | TCATCCAGACACTCT[C/T]TGAAAGAACTATGTT | 4867 |
rs565958610 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125941 | TAAGAATAGAATCAG[C/T]GAAACACTAACACAT | 4867 |
rs565964585 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186696 | GGTGTGTGTGAAAGC[A/G]ATGTAGCACCCCACA | 4867 |
rs566160609 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183175 | TAAACTGGCCCCAAA[A/C]CTGGCCATAAACAAA | 4867 |
rs566201874 | snp | C/T | 1.64855e-05 | 0.00287097 | missense | NPHP1 | GRCh38.p7 | 2:110165149 | CTTCTTCTTCTTCAC[C/T]ATAAGGCTAAAAAAC | 4867 |
rs566213949 | in-del | -/GA | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204678 | GGTCACGAATTTTGG[-/GA]GGTTTCGCCTTTGGC | 4867 |
rs566224789 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203481 | CAGCATAAGTCAATG[C/T]CCCATCAAGTTTTAT | 4867 |
rs566264005 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170255 | AGGAGACTCCGAATT[A/C]AAGTCTTGGATTCAT | 4867 |
rs566335551 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190864 | ATAAGCAAATTTATA[A/C]GAAAAAAAAACCCCA | 4867 |
rs566390568 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168325 | AGGTCCTGTCCCTCC[A/G]AAATTAAAGCAAATT | 4867 |
rs566421811 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133511 | GAAACAGAAGATCAA[C/T]AACACTGTAGACTAA | 4867 |
rs566425138 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144899 | ACAAGTGATTTTTTT[A/T]AATGTATTTTTCAAA | 4867 |
rs566434080 | snp | C/T | 1.88553e-05 | 0.00307039 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161711 | CCCTGAAAAAATCAT[C/T]TTTTCTTCATTTTCT | 4867 |
rs566454502 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161834 | ACTTGCTTTCCAAAA[C/T]AGAAGCGCCAATATA | 4867 |
rs566462087 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174699 | TTTGAGTTGTCTGGC[A/G]TACACATTCCCAACT | 4867 |
rs566506810 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177995 | ATCCTCCTGCCTCAG[C/G]CTTCCAAAATGCTGG | 4867 |
rs566608175 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190569 | CGGTTCCCACCCGCG[C/T]CTCTCCCTCCACACC | 4867 |
rs566641967 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137875 | AAAGACACATGCACA[C/T]GTATGTTTATTGCGG | 4867 |
rs566724315 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196639 | TACCATTTGACCCAA[C/T]TGTCCCATTACTGGG | 4867 |
rs566752879 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153557 | ACATCACTCCAACTG[C/G]AATGTTAACACTAGT | 4867 |
rs566761251 | snp | A/G | 0.000170791 | 0.0092394 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204982 | ATCTCCCTGGCTGCG[A/G]TGCTCTGATTGCTCC | 4867 |
rs566866150 | snp | C/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123987 | CTGAATGGGGGTAGG[C/T]GTGTGGAGTGGAGAA | 4867 |
rs566875282 | snp | C/T | 0.0021409 | 0.0326476 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204985 | TCCCTGGCTGCGGTG[C/T]TCTGATTGCTCCAGT | 4867 |
rs566894670 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152536 | GGCTGGATTTGTATG[C/G]TATATATCACCCCAT | 4867 |
rs566895399 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126729 | ATGCTGTACATTTTA[A/T]ATTTTATTCAGTTGG | 4867 |
rs566921003 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149442 | GTGCTAAGAAGATCA[A/T]GATGGACTTTTAGGA | 4867 |
rs566926941 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145634 | TGGAGTCACAGTATT[C/G]AAAATATTCTGCAAC | 4867 |
rs566944324 | snp | C/G | 0.0252325 | 0.109451 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137055 | CTTTGACAAACCTGA[C/G]AAAAACAAGCAATGG | 4867 |
rs566948697 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197373 | AGCAAAAGAGAAGGG[A/G]AAACATCAAACTGGG | 4867 |
rs567005884 | snp | C/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188128 | GGATGCCCTCCCTCA[C/T]TGCTCCTATTCAATG | 4867 |
rs567149876 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204257 | TCACACCTTCCTCAA[A/G]ACAGAGTGTTGTGAT | 4867 |
rs567165580 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110192153 | CAGAACAAAGCTGGA[C/T]GGAGAATGACTTTCA | 4867 |
rs567221857 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141898 | AAATGGCGTGAACCC[A/G]GGAGGCGGAGCTTGC | 4867 |
rs567225068 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193614 | GGGACAGAAAGTTAA[C/T]GAGGATATCCAGGAA | 4867 |
rs567226429 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156438 | CCTTTCTTTTGTAAT[C/T]TGCCCTTTCTTGGGT | 4867 |
rs567234012 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193916 | ATGACTACTGGATAC[A/G]TAACGAAATGAAGGC | 4867 |
rs567306113 | snp | A/G | 8.67999e-05 | 0.00658729 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110131790 | ATGTTTCTGGCAGTA[A/G]ACTATTAAAGAAGAA | 4867 |
rs567329898 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133715 | AAATGAAACTAGAAA[G/T]CAAAAGCAGAAGGAA | 4867 |
rs567349780 | snp | A/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178133 | ACATCAACATTGACA[A/T]TAAATATATCATCTT | 4867 |
rs567405932 | in-del | -/A | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158084 | TTAGAAGTAGTTTTT[-/A]AATTTACAAGTATTT | 4867 |
rs567469293 | snp | A/C | 0.00159617 | 0.0282053 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123244 | CTTGATTTGAAAAGG[A/C]AAAAGCGACTCTGTT | 4867 |
rs567544684 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197890 | TTTAATATAATGTAC[C/G]AAGAAAATAAATTAC | 4867 |
rs567620866 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186927 | CCCTGAATGACTCAG[A/G]TAAATAATGAAATTA | 4867 |
rs567653037 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157186 | ACTCTCAATTTGGAA[A/G]TCTCACATAAATTTC | 4867 |
rs567672749 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170183 | CTGGAGAGACTGAGG[C/T]GGAGAGGGAGCTGAG | 4867 |
rs567705122 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128235 | TTTTATCAGCAGGAG[C/T]CACCCCCTAATATGC | 4867 |
rs567717625 | snp | C/T | | | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122844 | CTAAAAGGTTCGCCC[C/T]GATAAGGCAGAACAT | 4867 |
rs567757048 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146974 | GAAAATAAAATGAAA[C/T]ACAGTAGAATCTCAT | 4867 |
rs567852475 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172447 | GTTGGATGTTTTAGT[A/G]ATTGATTTTCAACTT | 4867 |
rs567864667 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128936 | CCATCCTAAGTCAAG[C/G]AAAAAATGGGCAAAG | 4867 |
rs567925434 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204009 | TCACACAGAAATACC[A/C]TATTAGCCTGTTCCC | 4867 |
rs568014105 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184280 | AATCTGCTATCTCAC[A/G]GAGCATGGCATTGTC | 4867 |
rs568014153 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174995 | TGAATTCAATGTTAA[C/T]GAATCAATAAAATAT | 4867 |
rs568033926 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136860 | AAAAAGAGCCCGCAT[C/T]GCCAAGTCAATCCTA | 4867 |
rs568094489 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190525 | CCCACCCGGAACTCA[C/T]GCTGGCCCACAAGCA | 4867 |
rs568103177 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183911 | TAATCGGAAATAAAA[C/T]ATTCCTCAGCAAATG | 4867 |
rs568213212 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203108 | AAAAAAGAATGAAAT[A/C]ATGTCCTTTGCAGCA | 4867 |
rs568256437 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195015 | ACGTATCTCAAAATA[A/G]TAACAGCTATCTAAG | 4867 |
rs568303893 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144062 | CCATGAGGCAATGAC[C/T]ATATCTGTCTTGCTC | 4867 |
rs568373916 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174913 | CAAGAAGGCTATAAT[A/G]TACCTCTGGAGAAAA | 4867 |
rs568440032 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183339 | AAACAATAGCATGAG[C/T]GATCTGTGCCTTAAG | 4867 |
rs568514294 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174226 | CTCCATTTACATTTA[A/C]TGTAACTATCCAAAT | 4867 |
rs568573101 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158413 | ACTCCCCAACTATAA[C/T]AGAGGCCCCAACTAT | 4867 |
rs568605169 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165506 | TAAAAATAAAAGAAA[C/T]ATAAAAGCATTAGAA | 4867 |
rs568610070 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199318 | GTGAGCCTGTAATCC[C/T]AGCTACTCAGAAGGC | 4867 |
rs568656656 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant, splice-donor-variant | NPHP1 | GRCh38.p7 | 2:110125188 | TCAAACCACGACTCA[C/T]CGATTAAAGCAAGTT | 4867 |
rs568674870 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127652 | GCTTTCAAGCAGCCC[A/G]TGGCACATTCTGGGT | 4867 |
rs568732014 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126827 | AATAATATGGTTTAA[C/T]GTGAGTATCACTTAG | 4867 |
rs568752509 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173203 | CCTCGTGATTCGCCC[A/G]CCTCAGCACAGGCGT | 4867 |
rs568781864 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133562 | CAAAACACTCTACCC[A/G]GCAACAGCAGAATAC | 4867 |
rs568786034 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162439 | AGTACTGGGAAGAAC[A/C]TTCCCAGCAAAGGCA | 4867 |
rs568819618 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126089 | TGTCATGATGATGAC[A/G]ATGGTCAGAATGAGA | 4867 |
rs568827015 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156263 | TCTTGCACTGTTCTC[A/G]TGATGGTGAATGATT | 4867 |
rs568827153 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178873 | GGCACCAATCCCAAG[C/T]TCTGCCACTTATTGA | 4867 |
rs568888690 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145705 | ATACACAGAGCTCTA[C/T]CTCATTTAAAAAAAT | 4867 |
rs569130231 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190947 | CAGCACAGTGAAGTA[C/T]CATCTCATGCCAGTC | 4867 |
rs569160083 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122905 | TTTACTGGGAATATT[A/G]GCTGTGCCACTTATT | 4867 |
rs569160460 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203930 | TGAGCCACCACACCT[A/G]GCCTAAAAATTTTTA | 4867 |
rs569175708 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154171 | GAATGAGTCTCATGA[C/G]ATCTGATGATTTTAA | 4867 |
rs569209585 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153692 | GAGTTCTAAAAAATG[C/T]TCAAGTGGGGCGGGT | 4867 |
rs569250135 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198386 | GTAAATTAAATCATA[C/T]GCATACATCTAAGCT | 4867 |
rs569286636 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197447 | TTCCTCTTTGCTGGC[A/T]GTCAGCTTCCCACTG | 4867 |
rs569289426 | snp | A/G | 0.0263992 | 0.111815 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141986 | TCAAAAAAAAAAAAA[A/G]AAAGAAAGAAAAAGA | 4867 |
rs569289859 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137967 | TAAGAAAATGTGGCA[C/T]ATATACACCATGGAA | 4867 |
rs569343837 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160622 | CGCAGCATAAAACCA[A/G]TGCCACCTGGCATTA | 4867 |
rs569398092 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194963 | AATTTAACAACCCTT[C/T]ATGCTAAAAACTCTC | 4867 |
rs569410860 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199303 | GCCGAGTGTGATGGC[A/G]TGAGCCTGTAATCCC | 4867 |
rs569424645 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168259 | CCAGGGCTCACATGC[A/G]TAAGAGCACTTCACA | 4867 |
rs569448284 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199036 | GAGAAAAAAAAAGCC[G/T]CCTAGTCATGGAAGT | 4867 |
rs569531376 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196837 | CCATAAAAAATGATG[A/T]GTTCATGTCCTTTGA | 4867 |
rs569539604 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161421 | AGAAGAGAAACAAGA[G/T]AAAGTCAAGGTAGCA | 4867 |
rs569569236 | snp | A/G | 0.00119737 | 0.0244387 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205965 | ACAATATCCTAACTT[A/G]TAAGAGCACAAACTT | 4867 |
rs569596863 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189136 | AATTGCAACAAAAGC[A/G]AAACTTGACAAATAG | 4867 |
rs569603228 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135117 | ATACAAAATCAACAC[A/G]TAAAAATCGTACTTT | 4867 |
rs569606233 | snp | A/T | 1.73851e-05 | 0.00294826 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204998 | TGCTCTGATTGCTCC[A/T]GTTGCCAGGGAAACC | 4867 |
rs569608074 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124296 | GCCTCTACGTGGCTC[C/T]ATGAGACCAGGGTGT | 4867 |
rs569619516 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149505 | CACACAGTTGAGGTG[A/G]CTGGCCTCATCCACA | 4867 |
rs569638112 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189392 | CTGCAGACCTTCACG[C/G]TGAGTGTTACAGCTC | 4867 |
rs569670339 | snp | C/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193970 | CCAACGAGAACAAAG[C/G]CACAACATACCAGAA | 4867 |
rs569720338 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182311 | GTACTCCATGAGAAG[A/G]TCAACCCCAACACAC | 4867 |
rs569773714 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134329 | AATAACAAGTAAGGA[A/G]ATTGAATCAGTAATT | 4867 |
rs569822481 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157070 | GTGAGCCACTGCGCC[C/T]AGCCCAATGCTTTTT | 4867 |
rs569851965 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157695 | GTTGATTTTTACTCC[A/C]AGATATCTCTATCCA | 4867 |
rs569855528 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129821 | AGGGAGAATATTGAC[A/T]TTTCACAATAGATAA | 4867 |
rs569857610 | snp | C/T | 1.66935e-05 | 0.00288903 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164482 | AATTATCTATTCTTT[C/T]TGTACAAAAAAAAAA | 4867 |
rs569868801 | in-del | -/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144892 | ATTAATGACAAGTGA[-/T]TTTTTTTAATGTATT | 4867 |
rs569906650 | in-del | -/G | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179153 | AGGCTCATGTGAAAA[-/G]AAAAAAAAAAATCCT | 4867 |
rs569926333 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200234 | CACTCCAGCCTGGGC[A/G]ACAGAGAGAGACTCT | 4867 |
rs569955904 | snp | A/C/T | 0.000165303 | 0.00908978 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202424 | AGGGGCTGTTGATTA[A/C/T]TTGTCCTACAGACAC | 4867 |
rs569999722 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187840 | AGTTGGCTTCATCCC[C/G]AGGATGAAAGTTTGG | 4867 |
rs570004825 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148486 | GAACGGCCTCACACA[C/G]GGTTTCAGCCCTATT | 4867 |
rs570047408 | snp | A/G | 0.000399281 | 0.0141238 | synonymous-codon, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123998 | TAGGCGTGTGGAGTG[A/G]AGAAGTGGGAGCACG | 4867 |
rs570077419 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124773 | CAGGCCCAAGGCTGC[C/T]GTACTAGAATAGCAC | 4867 |
rs570166947 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192179 | TTTCATGAGTTGAGA[C/G]AAGAAGGCTTCAGAT | 4867 |
rs570178393 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172334 | TTTGTTGATATTGCC[A/T]ACTGTATGTCTGTTT | 4867 |
rs570205631 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192618 | ACTTCCCCAATCTAG[C/T]AAGGCAGGCCAACAT | 4867 |
rs570275823 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190543 | TGGCCCACAAGCACC[A/G]TGTGCAGGCCCGGTT | 4867 |
rs570315421 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187183 | AGATCAGAGCTGAAC[G/T]GAAGGAGATAGAGAC | 4867 |
rs570315904 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196502 | TTAAAAAGTCAGGAA[A/T]CAACAAGTGCTGGAG | 4867 |
rs570422572 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167757 | CGGAAGTGAGCAGCA[A/T]TCTTGTGGGACTGAG | 4867 |
rs570466304 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184845 | GTCCTTCCCAATTCC[A/G]GGCCCCTGAGCTGCT | 4867 |
rs570585671 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168291 | GTCCCCAGGACCATT[A/G]ATACACAATGTTTTT | 4867 |
rs570602803 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195941 | GGTGCTGGGAAAACC[A/G]GCTAGCCATATGTAG | 4867 |
rs570628873 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190286 | TGTGGAGCAGGGGGT[A/G]GCACTTGTCAGGGAG | 4867 |
rs570641638 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144930 | TGTGTTAAATCATTA[C/T]TTGAAATGAGGCCAC | 4867 |
rs570642300 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184358 | GGACCAGCTGCAGAC[C/T]TTCTCAGAGGAGCAT | 4867 |
rs570661917 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173972 | TTATCATTATGAAAT[A/G]TCCTTTCTTAAATAG | 4867 |
rs570683210 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173733 | AGTACATTCTATGAT[A/G]TTTGTACAATGATGA | 4867 |
rs570759240 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178972 | GTTTTCAAACAGTCT[A/C]AGTTGAAAAGTTTTG | 4867 |
rs570800461 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136924 | CCTGACTTCAAACTA[C/T]ACTACAAGGCTACAG | 4867 |
rs570823813 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166146 | TCACTGATTGTTAGA[A/G]GTGGGAGTACAAATT | 4867 |
rs570861839 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152440 | GTCAATGGACCACAA[A/G]TAGAAGATAGAAGAG | 4867 |
rs570913772 | snp | A/G | 1.67259e-05 | 0.00289183 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204896 | CTGCACAGCCTGACC[A/G]TACCTGTTGCTTCAG | 4867 |
rs570924367 | snp | A/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144149 | CAATATTTCTAGAGG[A/G]CAATTTGGCATGCAT | 4867 |
rs570945469 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163684 | TTTGTTTTTTGAGAC[A/G]GAGTCTCACTCTGTC | 4867 |
rs570964437 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133597 | TTTTCTCAAGTGCAC[A/T]TGACATATTCTCCAG | 4867 |
rs570994870 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183278 | AGGGAAAGGAACACC[C/T]GGCCCACCCAGGGCG | 4867 |
rs570995693 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130383 | AAACTTCTTACCTAT[C/T]GGGAAAACTAACAAG | 4867 |
rs571219910 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156359 | CACCATGTGAGATGT[C/G]CCTTTCACCTTCTGC | 4867 |
rs571232447 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163191 | GTTTCTGCATCTCTA[C/T]AATACTTTATCACTA | 4867 |
rs571247301 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201294 | GGTTGGTTTCTTCTA[C/T]ATTCAACTTACAACA | 4867 |
rs571269776 | in-del | -/TGGAACAA | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127025 | CCACTTCCTTTCTTC[-/TGGAACAA]AAAGAAGACTATACC | 4867 |
rs571326787 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148746 | AGATATTTATATTAA[C/G]CACTGTTCTTCATAA | 4867 |
rs571335884 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140163 | TTCCCAGGAATGTAT[A/G]TTTTGGGGTCATGCA | 4867 |
rs571404295 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189577 | AGCGAAAGAACAAAG[C/T]TTCCACAGTGTGGAA | 4867 |
rs571444457 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151125 | GAGCTGATACCACAC[C/T]ACTGCACTCCAGCCT | 4867 |
rs571468040 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179150 | GCCAAGGCTCATGTG[A/G]AAAAAAAAAAAAAAT | 4867 |
rs571515845 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185578 | CCCCACCCTCACTCC[C/T]ACCCACCAGGGTGCC | 4867 |
rs571616331 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145981 | CACAACAAGCCTTTG[A/G]AGTAGGAATTATTAC | 4867 |
rs571670142 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191372 | AGGAGATTACATCGC[A/G]CACATGGCTCAGAGG | 4867 |
rs571691525 | snp | A/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186241 | GTTGCTGGTTAGATT[A/T]TCTGAAACAGGAGGT | 4867 |
rs571744747 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154344 | CCAGTCTCAGGTATG[C/T]CTTTATCAGCAGCAT | 4867 |
rs571766911 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206020 | AATGAAATTATGCAC[C/T]GTGTGGTGGCTTCTC | 4867 |
rs571905866 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161468 | TAGTTATAAAAATAT[C/T]GCTATTTTCAAAATT | 4867 |
rs571933772 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206903 | GATCAGCATCATCAC[C/T]ACCTGGGACCTTGTT | 4867 |
rs571947223 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140906 | AAATTTCAGTAGTAG[A/T]GGTAAGAACAAGGGA | 4867 |
rs571959202 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198443 | AATCTAAGGTCTTTA[C/T]ATTAGTCAAGGGAAG | 4867 |
rs571980150 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134392 | TCAGATGGCTTCACT[A/G]GAGAATTCTACCAAA | 4867 |
rs572000103 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197517 | AGGGGGCCCACGGCT[A/G]CCAGTGTAACATAAA | 4867 |
rs572241527 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142348 | TTAATACACTTAGAC[-/T]TTTTTTTTTTTTAAT | 4867 |
rs572275696 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125472 | AGCTAACGATCATGC[A/G]TAACCCTCTTGGAAT | 4867 |
rs572307452 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180901 | GTGTCTCAGCAGAGC[A/T]GCTGCTCAGGCACAT | 4867 |
rs572364737 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189246 | CTTCAAGAATGAAGC[C/T]GTGGACCCTCGCAGT | 4867 |
rs572400675 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188420 | TTCACAACTGCTACA[A/T]AAAGAATAAAATACC | 4867 |
rs572428074 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156571 | GTGGACTAAAGGCTT[A/G]AGGCTCCTCTCCAGT | 4867 |
rs572444470 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201564 | GAAAACTTCTTTTTT[A/T]ATCCAATATTTTATA | 4867 |
rs572516729 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163907 | CCCAGGTGATCCACC[C/T]GCCTTGGCCTCCCAA | 4867 |
rs572517823 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180805 | ACCATGTTTCTCCCA[C/T]GGATCTCTGCAACCC | 4867 |
rs572526629 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149107 | CGTAAGAGCCTGGCA[C/T]AGGGCCTAGCACACA | 4867 |
rs572534472 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145321 | TTGGAGGCAGAATCT[C/T]GCTCTGTCACCCAGG | 4867 |
rs572536390 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200987 | ATTAATAGTCTAAAT[C/T]TGATGTAGTTCATCA | 4867 |
rs572552864 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180594 | AATGAAGAAGGGCAA[A/G]TGAATTCAGCACTTT | 4867 |
rs572567556 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193078 | TGAAGACCATCGAGG[A/C]TAGGAAGAAACTGCA | 4867 |
rs572583436 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123313 | GACTGAATTAAGTGA[C/T]ACAACTTTCTCAAAT | 4867 |
rs572601732 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166125 | AATTGTGTGAGGAAA[C/T]AGCACTCACTGATTG | 4867 |
rs572636364 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175307 | CCACGTACCCATCTT[C/T]TTCAATCCTTTTTGA | 4867 |
rs572695293 | snp | C/T | 4.97492e-05 | 0.0049872 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124093 | CCCCCACAAATAACA[C/T]TGTTATTTTTAAAGT | 4867 |
rs572718850 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176833 | TTCCAGGACTATATG[A/T]TTACCAGAATCCATT | 4867 |
rs572758469 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163467 | TTAATGTCTATTGGC[A/C]AATCACATGCACTGA | 4867 |
rs572826312 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196843 | AAAATGATGAGTTCA[C/T]GTCCTTTGAAGGGAC | 4867 |
rs572874476 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145285 | TCTGGGAACAGTTTT[G/T]CTTTGTTTTGTTTTT | 4867 |
rs572888386 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197582 | CCCTTACCAGGCATG[A/T]AAAGAATCTCTCCTA | 4867 |
rs572906414 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167428 | TTTAGTTAAACATGG[C/T]TAATGAAACCTTCAG | 4867 |
rs572970573 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190719 | GGCGCCAAGAGTGAG[C/T]GAGGGCTGTGAGGAC | 4867 |
rs572996012 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175291 | AGGCTTTTATATGTA[A/C]CCACGTACCCATCTT | 4867 |
rs572996292 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154513 | ATGTGGGAAAGTTTG[A/G]AATCTCCTAGAAACT | 4867 |
rs573075282 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167823 | ATTAGCATCAGAATC[A/G]AATTGAATTGCTGAC | 4867 |
rs573147528 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157930 | CTTTTCTAACATAAG[C/G]ATCTAGTGCTATAAA | 4867 |
rs573147832 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166267 | ATCTAAGGGGATAAT[C/T]GGGCAAGTGTGCAAA | 4867 |
rs573189421 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144345 | AAATAAGTACTTAAA[A/G]ATGATTAAAATTTTT | 4867 |
rs573191473 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159950 | TTTCCATCTAAGTAC[G/T]GTTTAACCTGTATCT | 4867 |
rs573192954 | snp | C/G/T | 8.24621e-05 | 0.00642071 | missense | NPHP1 | GRCh38.p7 | 2:110143549 | GTACCCACCTTAGTA[C/G/T]ATTTCTTGATCTTCT | 4867 |
rs573197292 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196022 | GATGGATTAAAGACT[G/T]AAATGTTGGACCTAA | 4867 |
rs573240890 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183340 | AACAATAGCATGAGC[A/G]ATCTGTGCCTTAAGG | 4867 |
rs573265975 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179913 | GAAACCTTCAGTGTC[C/T]CTGGGCATCAGTTTC | 4867 |
rs573311450 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186569 | CAGCCTGTCTTCACC[A/G]GCACCCTCACCTGTG | 4867 |
rs573314919 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150064 | ATCAATGTCCTCAAA[C/G]AACACCAAAGAATCT | 4867 |
rs573384988 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127668 | TGGCACATTCTGGGT[A/G]CACCCAGAGCTGACC | 4867 |
rs573403800 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202717 | CAAATTAAAACTACA[A/G]TGAGGTACCATCTCA | 4867 |
rs573451554 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195356 | ACAAGCATTCTTATA[C/T]ACCAATAACAGACAG | 4867 |
rs573477501 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153686 | AGAATGGAGTTCTAA[A/G]AAATGTTCAAGTGGG | 4867 |
rs573481552 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151691 | ATATATATGTTTAAA[C/T]TTTTCCTGAAATTAT | 4867 |
rs573492152 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156002 | CTCATCTTGACTTGT[A/T]ACTCCCTCAATTCTC | 4867 |
rs573558421 | snp | C/G | 0.00914312 | 0.0669923 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156512 | AGGAAAAAGAAAAGA[C/G]ACAAACAAAAAAGAG | 4867 |
rs573666779 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132874 | ATGTTATATGTAATA[C/T]CATGGTAACCACAAA | 4867 |
rs573673877 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158954 | CTCTCCCTTCTATTC[C/T]TAGTTTGTAGATAAT | 4867 |
rs573744074 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149157 | ATGATATTGTTATTC[G/T]TCATGTATGTATTTT | 4867 |
rs573754267 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124188 | TGCCTGGCAGGTATC[A/G]GCTCTGAGCCAGCTG | 4867 |
rs573779454 | in-del | -/A | 0.455383 | 0.142541 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153983 | GCAAAACTCCATCTC[-/A]AAAAAAAAAAAAATG | 4867 |
rs573783181 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163267 | AGTGGAAGAATAATA[C/T]GATTTGGCCCCAAAT | 4867 |
rs573818571 | snp | A/C | 0.000399281 | 0.0141238 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123563 | TTGAAAAAATAAATA[A/C]TGTTTAAATTTAGAT | 4867 |
rs573837144 | in-del | -/C | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132174 | GCAGAAGAAATAATT[-/C]AGGCTGTTCACAGTA | 4867 |
rs573844377 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139805 | GGGTGAGGATAGAGG[C/T]GGGGCGTGCCTTTGA | 4867 |
rs573877194 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192272 | GAAAAAAGATTAGAC[G/T]AATGGCTAACTAGAA | 4867 |
rs573912673 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143920 | CAGACCCCAAACTCC[C/T]TTCTGTTCCAAGAAG | 4867 |
rs573915719 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199911 | AGTTTTTAAATGACA[A/G]TAACAATCTTCTTTT | 4867 |
rs573933871 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169292 | GAACTAAAATTCATA[C/T]ATTCACTTAAATTTC | 4867 |
rs574005728 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130308 | AAAATTCATTCTTTA[A/G]ATATTATTAGGATAT | 4867 |
rs574022232 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149406 | GCCAAAAGAGAGGCC[A/G]TGCTTCTCACCAGAG | 4867 |
rs574175676 | snp | A/G | 0.0111196 | 0.0737302 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138069 | TCTCAGCAAACTATC[A/G]CAAGACAAAAAACCA | 4867 |
rs574187846 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137450 | GGCTAATATACAGAA[G/T]CTACAGTGAACTCAG | 4867 |
rs574193541 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184730 | GTCAAGGCCATAAAA[C/G]AAAGACCCTCCTACC | 4867 |
rs574211773 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146144 | ACTGCCTGCCCATTT[G/T]TGTCCCTTCTTGAAT | 4867 |
rs574231404 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177753 | ACTTCAATTTTTTTT[G/T]TTTTTAATAGAGACA | 4867 |
rs574253474 | snp | C/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110207020 | TGCACATTCAAGTTT[C/G]AGAAGTACCACTGAG | 4867 |
rs574269757 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186997 | AAGAGACAACGTATC[A/G]GAATCTCTGAAATGC | 4867 |
rs574342831 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127404 | CATGGGTGTAGAAAC[A/C]ACCACCACTTTCTTT | 4867 |
rs574430900 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126368 | ATGAGTAACCTGAAA[C/G]CATCAGACCTTTCTC | 4867 |
rs574461538 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158795 | TTCAAGTCTTTTGTC[C/T]CTTTAGAAAACTGAG | 4867 |
rs574515060 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201683 | ACTATACTTATTTGA[G/T]CTATCCGTCAACCCA | 4867 |
rs574521084 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134572 | TATTCCTGAATATTG[A/C]TGCAAAATCCTCAAC | 4867 |
rs574524023 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174296 | TCTCATCTGTTTATT[C/T]CTCCTTTCTTGCCTT | 4867 |
rs574537968 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203646 | AGTGAATCTCTTACC[A/G]GCCTCAGATTATAAA | 4867 |
rs574557392 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189257 | AAGCCGTGGACCCTC[A/G]CAGTGAGTGTTATAG | 4867 |
rs574650487 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182644 | AGCTCCTGAAGGAAG[A/G]ACTAAATACGGAAAG | 4867 |
rs574722763 | in-del | -/ATAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124998 | CTCTCACCTCTTTTC[-/ATAA]ATAAAGTTTTATAGG | 4867 |
rs574762146 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173526 | ATGGCCCCATACATA[G/T]AATACCATATTTTTA | 4867 |
rs574804060 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142251 | AGATGCTCCTCAACT[C/T]ATGGTGGGTTATAGC | 4867 |
rs574842000 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134023 | GATTAGGTCAGATAT[A/G]GACAAAATAAAGAAT | 4867 |
rs574875046 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188592 | CATACTGCCCCAAAT[A/G]ATGTATAGATTCAAT | 4867 |
rs574888437 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172627 | CTCTACAAAAAATTT[A/T]AAAAATTTGCCAAGC | 4867 |
rs574894814 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131938 | AAGAAAAATTTCTAC[G/T]ACAAGTAGGCCACAT | 4867 |
rs574897657 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200552 | TGGGTGACAGAGTGA[A/G]ATTTAGTCTCAAAAA | 4867 |
rs574913885 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193810 | ATAACAAACTGTCTC[A/T]CAGACCAAAGTGCAA | 4867 |
rs574931568 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164162 | CCACCTCAGCCTCCC[A/G]AGTAGCTGGGACTAC | 4867 |
rs574940851 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174535 | GCTGTGCTATTGTCA[C/T]ATTTTCCTTCTACAT | 4867 |
rs575077043 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171204 | TGTTAGCTTGGGCAC[A/G]TCACTAAATCTTTCT | 4867 |
rs575135245 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177404 | TTTTTCTTTTGCTTC[C/T]CACAAATTGGGTTTG | 4867 |
rs575147456 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206333 | TATACCCTATCAGCA[A/G]TGTATGAGTTTTTGT | 4867 |
rs575166011 | in-del | -/TT | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165570 | TCATGATACAAAATC[-/TT]AAAAATCATAAGTGG | 4867 |
rs575178305 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163599 | TCAGGAAGGACACGT[A/C]CTAAATTGTTAATGG | 4867 |
rs575187806 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166497 | CCAAGAAACCTTCTT[A/C]AAAAGGCAGCAGCTT | 4867 |
rs575229471 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156818 | AGTTTCTCTCTGTCA[C/G]CAGGCTGGAGTGCAG | 4867 |
rs575231712 | in-del | -/G | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185609 | CTGAGGACCCAGGCA[-/G]CTGCTGCCTCCCCTT | 4867 |
rs575235031 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184067 | TGCCGTGGAGTCTTA[C/T]GATACAATCACCAAC | 4867 |
rs575238113 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185217 | CTCTCTCTGAAGTTA[A/T]CTCCACTTTAAAACT | 4867 |
rs575250589 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138211 | AGCATTAGGAGATAT[A/G]CCTAATGTTAAATGA | 4867 |
rs575266890 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138770 | GCCAAGGTTTTGCCA[A/G]GGAAAGGGGTGGGAA | 4867 |
rs575269744 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191055 | CAAGATGGCCAAATA[C/T]GAACAACTCCAGTCT | 4867 |
rs575311609 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176543 | ATGGACACATTACAT[G/T]ACTCACTTACAGACT | 4867 |
rs575337918 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154595 | CCAGGCTGAGGTAGT[C/G]TCTGATGGAGATGAG | 4867 |
rs575348991 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197922 | TATTACAATTACCTC[C/T]TTTATAACTATGTAA | 4867 |
rs575417164 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147041 | AGTGATAATCATATT[C/T]TGTCAAAATTGCTCT | 4867 |
rs575464200 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151890 | TACCTCTGCTTTTAT[A/C]TTTTCAATTTGGAGA | 4867 |
rs575495497 | snp | A/C/T | 0.00199529 | 0.0315338 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145103 | TTTTCTATGCAAATG[A/C/T]AAACAAATGTATAAA | 4867 |
rs575561825 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154369 | CAGCATGAGAATGAA[C/T]TAATACAGTAAATTG | 4867 |
rs575607522 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190583 | GCCTCTCCCTCCACA[C/T]CTCCTCGCAAGCTGA | 4867 |
rs575642177 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181057 | CACTTCCATGGCCCC[A/C]ACTTCCATGGCAACT | 4867 |
rs575719943 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172672 | CTGTAGTCTCAGCTA[C/T]TCAGGGAGGCGGAGG | 4867 |
rs575732055 | snp | A/C | 1.90463e-05 | 0.00308591 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129300 | TTTTATGCAAACTTC[A/C]CTCAATGGATTTTAT | 4867 |
rs575807514 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181875 | TGAAACCCACTGCAA[A/T]GAAGCTAAGAATCAT | 4867 |
rs575812346 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136554 | AGAGAGCCAAATCAT[C/G]AGTGAACTCCCATTC | 4867 |
rs575825106 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159541 | ATTTATCTATTTCAT[A/C]AATGTTGTCAAATTT | 4867 |
rs575847077 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190379 | CGAGCCCTGCCCCGC[A/G]GGAAGGCAGCTAAGG | 4867 |
rs575860268 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148224 | CACCACAGAGAGTTC[A/G]TTCTCAGGAGATCAG | 4867 |
rs575885464 | snp | G/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196145 | CAACAAAAGCCAAAA[G/T]TGACAAATGGGATCT | 4867 |
rs575921612 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181911 | ACCAATACAGGAGCT[C/G]ATAGCCAGAACAGCC | 4867 |
rs575935144 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140805 | AACATCCAAGGGGGA[A/G]AAAAGCTAAGAGAGT | 4867 |
rs575972894 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124492 | ATTGTAGCAGGTGTT[A/C]TGCATAGGATCCAGA | 4867 |
rs576045152 | in-del | -/A/AA/G | 0.000156534 | 0.00884548 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168404 | TGTTTTATTAAAAGC[-/A/AA/G]GAAAAAAAAAAAAGT | 4867 |
rs576218292 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124825 | AGTCACATGTATGTA[C/G]ATGGTACTGATCAAA | 4867 |
rs576255122 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133076 | GTAATCACTTTAAAT[A/G]TAAATAAATTAGACT | 4867 |
rs576275575 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187460 | CACCCTCCCAAGACT[A/G]AACCAGGAAGAAATT | 4867 |
rs576277040 | in-del | -/A | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150848 | GCCATTGCACCCAGC[-/A]AAAAAAATGGTCTTT | 4867 |
rs576284686 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181410 | CAAATCAGTACTCTC[C/T]TGGGACAGAGCTTCC | 4867 |
rs576337081 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163408 | TTATCAAAATGTCCC[C/T]GCTCCTGTCCTGCTC | 4867 |
rs576392896 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193683 | CTACAGAACTCTCCA[A/C]CCCAAATCAACAGAA | 4867 |
rs576495586 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156141 | TAGTGACATGATCTC[A/G]GCTCACTGCAACCTC | 4867 |
rs576507559 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180076 | AAGCAGTTTACAAAC[A/G]TTACCTCATTTAAGC | 4867 |
rs576535183 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186428 | GATCTTGGGCCACTC[C/T]TGACCTTGGACCTGC | 4867 |
rs576544109 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170350 | AAATTCTGGCTCTAT[A/T]CCCTCTTTGCTGGGT | 4867 |
rs576555890 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199954 | AGACTATGGTTACTT[G/T]GGCTTAAAAATAATT | 4867 |
rs576558663 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131261 | CTCCATATCTGGATT[C/T]ACCAATTTAAACTAA | 4867 |
rs576579173 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185837 | GGAGGGCAGGAGTAG[C/T]ACTCCCCCTGAATGG | 4867 |
rs576638150 | snp | A/C | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137304 | AAAAGCAATGGCAAC[A/C]AAAGCCAAAATTAAC | 4867 |
rs576692928 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205667 | TGATGATGCTTGGGG[C/T]TCACCTTCCAAATGA | 4867 |
rs576704202 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131991 | ATTTGTTTACACTTT[C/T]GAGTCTCAACCCTGT | 4867 |
rs576794521 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169459 | AGCTAACAGGAAAGA[C/T]TGCTACAAAATGGCA | 4867 |
rs576827834 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205096 | GGTCCCGGGAAGGGT[C/T]AAATGTTCTCTTGCG | 4867 |
rs576906277 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204359 | TGTTTATGAGTTACT[A/T]GTATTTCCTCTCTCG | 4867 |
rs576951590 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195110 | CACAAGACAGGGATG[C/T]CCTCTCTCACCACTC | 4867 |
rs576962479 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167295 | ACAGCTTCAGGAAGG[G/T]GACAGGTTACCAGAA | 4867 |
rs576966348 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196209 | AACTACCATCAGAGT[A/G]AACAGGCAACCTACA | 4867 |
rs576975477 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183464 | ATCTATAGAAACAAT[A/G]CTTATCACTGGCTTG | 4867 |
rs577070620 | snp | C/T | 0.000148411 | 0.00861298 | missense | NPHP1 | GRCh38.p7 | 2:110164702 | CCTCTGAAATCGCTT[C/T]CTGAACAGCACTCCA | 4867 |
rs577078760 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202565 | CTCCAGAGCCAATAT[C/T]TCTCCAGGGAGAATA | 4867 |
rs577085588 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174341 | AATCACGTTTAGTAT[C/T]CCATTTTATTGTGTT | 4867 |
rs577110955 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128341 | CCCACCACCTACCAC[C/T]GCCCTCAGCCCCACA | 4867 |
rs577160598 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151453 | TGACATCTTCCAAAG[A/G]AATGGATAATAGTTA | 4867 |
rs577166171 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173895 | TTATACATTTGAACC[C/T]ATATTATTAAATGTA | 4867 |
rs577182761 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170748 | CTAACCCAGGTTGCA[C/T]GAATGGGAATCATAA | 4867 |
rs577197323 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166420 | CTTCCTTGCAGCTAA[C/T]TGTTGCCAGAGAACT | 4867 |
rs577257571 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189565 | TTTATTGCAAACAGC[A/G]AAAGAACAAAGCTTC | 4867 |
rs577296909 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189270 | TCGCAGTGAGTGTTA[C/T]AGTTCTTAAAGGCGG | 4867 |
rs577311738 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186501 | AATGGAGCCAGGCCT[C/G]ACTCCTAGGAGTAGT | 4867 |
rs577327979 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157451 | GTTCATTTCTTTACC[A/C]CAAGTTCAGATGAAA | 4867 |
rs577348880 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192224 | GAGCTAAAGGAGGAA[A/G]TTCGAACCCGTGGAA | 4867 |
rs577378441 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162700 | ATTCAAGGGGCTGAT[A/C]CTTTAAGGTGGGGAG | 4867 |
rs577401315 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204528 | TGGAGGAGAGGAGCT[A/G]GGCTCAGAGTTGGGT | 4867 |
rs577420609 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143472 | AATATGAGGAAAAGC[C/G]AAAAGCAGAGATGGT | 4867 |
rs577422820 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134734 | AATTAAGGGGAAAAA[C/T]CCACATTATTTTCTC | 4867 |
rs577469716 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198776 | CATTCTTATTCAGGG[A/G]ATGGTACTAGCAGGA | 4867 |
rs577560349 | snp | C/T | 8.26344e-05 | 0.00642731 | missense, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147933 | TGCGAATATAAGAAA[C/T]TCCAAGTTCAAATAA | 4867 |
rs577577131 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146384 | CCACCTACAGAGGAA[A/G]GGTAGAGACTCACAG | 4867 |
rs577598822 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147150 | CAAATCATATCAGTA[C/T]TACATGGGATGATGA | 4867 |
rs577695490 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185948 | GCTTTCCATCCGTTC[C/T]TGTTGCAATGCCATC | 4867 |
rs577698811 | snp | G/T | 0.000399281 | 0.0141238 | missense | NPHP1 | GRCh38.p7 | 2:110168520 | TCCACCAACCATCAG[G/T]TTTTTTTTCAATTAC | 4867 |
rs577726789 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154664 | TGTTTTAGTGAAGAG[A/G]CTGGTGGCATTTTGC | 4867 |
rs577742489 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206589 | ATTGCTCTAAAATAC[A/G]GCTATTACTTATGAA | 4867 |
rs577784059 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132201 | AGTACTGGGTGGAAC[A/C]TGGGAGGGTGTGACA | 4867 |
rs577822679 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131372 | ATACCAAACACATGG[A/G]AAAAAACAGATTACT | 4867 |
rs577839054 | snp | A/G | 0.0352966 | 0.128072 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153993 | CATCTCAAAAAAAAA[A/G]AAATGCTCAAGTGAC | 4867 |
rs577839358 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192605 | ATTATCCAGGAGAAC[G/T]TCCCCAATCTAGCAA | 4867 |
rs577887606 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137998 | TACTATGCAGCCATA[A/G]AAAATGATGAGTTCA | 4867 |
rs577893358 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155203 | GTGGTATTGAGCCTG[A/C]AGGTGCCCAGAAGTC | 4867 |
rs577906242 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181176 | AGGGGTGGCTGCTAT[C/T]TCTGGGGTTCAGTAG | 4867 |
rs577930195 | in-del | -/CT | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152488 | TAGAGGTTTCCTGGG[-/CT]CTGAGTCCAGAAGGA | 4867 |
rs577940581 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177523 | CAAGGAAATGCTCAT[G/T]GGAGTCTTTCAAAAT | 4867 |
rs577940837 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183528 | ATGCTCTCAGCTCTG[A/G]AAGCTGTGAGACCCC | 4867 |
rs577952539 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130175 | CACTCAAAGGCCCCA[C/G]TTTTCAATACCATTA | 4867 |
rs578051375 | in-del | -/C | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135467 | GGAGACACAGCGAGA[-/C]CCCCGTCTCAAAAAA | 4867 |
rs578228374 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196868 | AGGGACATGGATGAA[A/G]CTGGAAACCATCATA | 4867 |
rs578248017 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191004 | AAAACAGATGTTGGC[A/C]AAATTGCAGAGAAAA | 4867 |
rs578257039 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190678 | GGCTCCTCAAGTGCC[A/G]CCAAAGTGGGAGCCC | 4867 |
rs587780405 | snp | A/T | | | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164666 | ATCTTCTGTCTTGTT[A/T]ATCATGTCTCGTTTT | 4867 |
rs745321991 | in-del | -/G | 0.000156534 | 0.00884548 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168405 | TGTTTTATTAAAAGC[-/G]AAAAAAAAAAAAGTC | 4867 |
rs745340220 | snp | C/T | 1.79532e-05 | 0.00299604 | missense | NPHP1 | GRCh38.p7 | 2:110131768 | ATAGAACACATATTT[C/T]CAATTAATGTTTCTG | 4867 |
rs745369433 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160645 | TGGCATTAAGATTAT[A/C]CCCACTATTTTTTAT | 4867 |
rs745401034 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161841 | TTCCAAAATAGAAGC[A/G]CCAATATAGATTTAT | 4867 |
rs745454431 | snp | A/T | 1.64749e-05 | 0.00287005 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110164595 | GAACCCTGTTTCAGA[A/T]CCATTGGTGTCTTCC | 4867 |
rs745468540 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139433 | TTGCTCTCTTTTTCT[C/T]ATGTTGACAAGGTCG | 4867 |
rs745489762 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185564 | CTAGGCTGGACTGGC[C/T]CCACCCTCACTCCCA | 4867 |
rs745542859 | snp | C/T | 1.64933e-05 | 0.00287165 | missense | NPHP1 | GRCh38.p7 | 2:110146817 | AGCCACAGCTTAACT[C/T]TCCTCTTTCACCAGT | 4867 |
rs745556096 | in-del | -/A | 1.6947e-05 | 0.00291088 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178365 | TTTGAGTTAAACATT[-/A]AAGCTATTGGTGATA | 4867 |
rs745597505 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170610 | AAACCAGACATGATT[C/T]CCCATCCTCAAGGAG | 4867 |
rs745639828 | snp | C/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124018 | GTGGGAGCACGCAGT[C/T]ATGGTAAACCAGGAG | 4867 |
rs745657805 | snp | C/T | 1.67136e-05 | 0.00289076 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147894 | TGATACATTAGAAAG[C/T]CTTATCTTTCAACGG | 4867 |
rs745660659 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132457 | GTCAGGAGTTTGAGA[A/C]CAGCCTGGCCAACAT | 4867 |
rs745757838 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204199 | TTTCCTGAAATGCTG[C/T]ACAAGCACCTTATAC | 4867 |
rs745768183 | snp | C/T | 1.64868e-05 | 0.00287109 | missense | NPHP1 | GRCh38.p7 | 2:110169856 | AATCTCCAACAGCGA[C/T]GTATTCTTCACCGGT | 4867 |
rs745806504 | snp | C/T | | | splice-donor-variant | NPHP1 | GRCh38.p7 | 2:110201420 | ATTTAGCATACTTTA[C/T]CTTTGATAAATATGT | 4867 |
rs745829554 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184840 | GATTGGTCCTTCCCA[A/G]TTCCGGGCCCCTGAG | 4867 |
rs745835094 | snp | C/T | 1.65603e-05 | 0.00287747 | missense | NPHP1 | GRCh38.p7 | 2:110169972 | TCACTTTCACTTTCT[C/T]CCTCTTCTTCAGTAG | 4867 |
rs745877439 | snp | A/G | | | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110148008 | CACCATCAAGCAAAC[A/G]TGGTAAGATGCGAGT | 4867 |
rs745909826 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185166 | TGCCTGATCTATCCA[C/T]AGGAAAACCTTCTAA | 4867 |
rs745928272 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191189 | AGTGGGTGCAGCACA[A/C]CGAGCATGAGCTGAA | 4867 |
rs745948084 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141730 | GTAATCCTAGCACTT[G/T]GGGAGGCCGAGGTGG | 4867 |
rs745966160 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125568 | GCTAAAAAAGAGACA[C/T]GATTAGAATAGGCAA | 4867 |
rs746027698 | snp | C/T | 1.648e-05 | 0.0028705 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110143586 | GGATCTCAGTTTCAC[C/T]AGAAGTTGAGGCTGC | 4867 |
rs746045737 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153683 | CTCAGAATGGAGTTC[-/T]AAAAAATGTTCAAGT | 4867 |
rs746114156 | snp | C/T | 1.67694e-05 | 0.00289558 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144451 | AGATGCTTCTATTTG[C/T]TTAATCTTTAAGGAA | 4867 |
rs746130417 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155626 | ACATGGAGTCAAAGG[A/C]GATCATTTTGGAGCT | 4867 |
rs746141291 | snp | A/C | 0.000339674 | 0.0130277 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202513 | ATTAGCTAATACTAT[A/C]AAAACAAACTTTCCA | 4867 |
rs746222225 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203927 | GCATGAGCCACCACA[C/T]CTGGCCTAAAAATTT | 4867 |
rs746229585 | snp | C/T | 1.64768e-05 | 0.00287021 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110165087 | ATCTGCTGTTTCATC[C/T]ACCGCCTCTACATCT | 4867 |
rs746229818 | snp | C/G | 3.34135e-05 | 0.00408725 | missense | NPHP1 | GRCh38.p7 | 2:110204906 | TGACCATACCTGTTG[C/G]TTCAGCTCCTGATTG | 4867 |
rs746242258 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165297 | ACAAAAGCATCAGTA[C/G]TTTCAGAAAATCTTG | 4867 |
rs746317602 | snp | G/T | 1.65228e-05 | 0.00287422 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165181 | ATTGAAATGTGAAGT[G/T]CTTTTTAACTAATGC | 4867 |
rs746411201 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163575 | ATAAGTAATAAATAA[C/T]GAAAAAGGTCAGGAA | 4867 |
rs746420425 | snp | A/C | 3.29679e-05 | 0.00405991 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150284 | TTTCCCTTTTGAAAT[A/C]ATGTAAAAAGCTCTT | 4867 |
rs746482479 | snp | C/G/T | 8.23858e-05 | 0.0064177 | missense | NPHP1 | GRCh38.p7 | 2:110160194 | CTCATTCCTGGAAGA[C/G/T]GAATCATTTTACAGC | 4867 |
rs746500501 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138534 | CCTACATTTTAAAGA[C/T]GGGATGCAGGGGACC | 4867 |
rs746510153 | snp | C/T | 1.73444e-05 | 0.00294481 | missense | NPHP1 | GRCh38.p7 | 2:110129236 | GCATGGGGAAGGTGG[C/T]CAGCATGGGATGGCT | 4867 |
rs746515295 | in-del | -/AAAG | 3.31675e-05 | 0.00407218 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178398 | TCTTTAAAAAAGAAA[-/AAAG]AAAGGTAGAAAGGAA | 4867 |
rs746570726 | snp | A/C/T | 3.93377e-05 | 0.00443482 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129306 | GCAAACTTCACTCAA[A/C/T]GGATTTTATTGCAAT | 4867 |
rs746573885 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148477 | GCAATGCAAGAACGG[C/T]CTCACACAGGGTTTC | 4867 |
rs746591183 | snp | C/T | 1.64817e-05 | 0.00287064 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178467 | AGCAAGGCCCTGCAG[C/T]TGTTGGGTAAGCTTG | 4867 |
rs746609319 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128253 | CCCCCTAATATGCTC[A/G]CCTCCCTCCTGCACA | 4867 |
rs746627162 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205124 | GCGGTGGTCATCCCA[C/T]GCCACCAGGCAGGTC | 4867 |
rs746627425 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133956 | TCAACAACCTAACTT[C/T]ATGCCCTAAGGAACT | 4867 |
rs746632878 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186770 | AGCCTGTCCCTCGCA[A/C]AGCCTTGCACAAACC | 4867 |
rs746680702 | snp | A/G | 3.31636e-05 | 0.00407194 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164493 | CTTTTTGTACAAAAA[A/G]AAAAAAAAACTAATG | 4867 |
rs746714676 | snp | C/T | 1.68255e-05 | 0.00290043 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178592 | AAAAATTAATTTCAG[C/T]TTCCTAATTTCAAAA | 4867 |
rs746787921 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145739 | TGTGACTTCACTTTC[A/G]GAAAGATGGAATAGA | 4867 |
rs746794849 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199979 | ATAATTATTAGGGGC[C/T]GGGCGCGGTGGCTCA | 4867 |
rs746804289 | snp | A/T | | | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147554 | TGCTAAGTCCCTTAA[A/T]TAGAAACCTCAGTTA | 4867 |
rs746873534 | snp | C/T | 4.94605e-05 | 0.0049727 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110146797 | AAAAAGTTTAAGAAA[C/T]ACCCAGCCACAGCTT | 4867 |
rs746921239 | snp | A/C | 1.82045e-05 | 0.00301694 | utr-variant-5-prime, upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205012 | CAGTTGCCAGGGAAA[A/C]CAACCGGCGGCGCCA | 4867 |
rs746937966 | in-del | -/A | 4.84461e-05 | 0.00492145 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131803 | AGACTATTAAAGAAG[-/A]AAAAAAATGTATTCA | 4867 |
rs746943859 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151117 | GTTGCAGTGAGCTGA[C/T]ACCACACCACTGCAC | 4867 |
rs746961491 | snp | A/G | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124003 | GTGTGGAGTGGAGAA[A/G]TGGGAGCACGCAGTC | 4867 |
rs747055177 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171593 | CATATTGATTTTCAA[C/T]GCGTCTCTTTCCTTC | 4867 |
rs747059374 | snp | A/G | 0.000124758 | 0.00789706 | intron-variant, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125201 | CACCGATTAAAGCAA[A/G]TTCGGATTGGTAATT | 4867 |
rs747107346 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154381 | GAACTAATACAGTAA[A/T]TTGGGACCAGGAGTA | 4867 |
rs747137101 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141889 | GAGGCAGGAAAATGG[C/T]GTGAACCCGGGAGGC | 4867 |
rs747172399 | snp | G/T | 1.65861e-05 | 0.00287972 | missense | NPHP1 | GRCh38.p7 | 2:110161667 | GGCATGAGCTCTGGT[G/T]GTAAGAAGTAATTTG | 4867 |
rs747176517 | snp | C/T | 1.65864e-05 | 0.00287974 | missense | NPHP1 | GRCh38.p7 | 2:110169924 | TCTTCCTCCTCTGCA[C/T]CTTCTTCCTCCCCAC | 4867 |
rs747192826 | in-del | -/AC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139208 | ATAGCAAATTTACAC[-/AC]ACACACACACACACA | 4867 |
rs747209604 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130715 | TGTCTTCTTTCCTTG[A/G]GTCTTCAGACATGCT | 4867 |
rs747244701 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172282 | AGTAATGCTAGCAGC[G/T]TATCCATTTAATTAA | 4867 |
rs747260279 | snp | A/T | 2.13897e-05 | 0.00327023 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161735 | ATTTTCTTACAAAGA[A/T]AGAAACTCCAAATCA | 4867 |
rs747283364 | snp | A/T | 2.68712e-05 | 0.00366537 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131813 | AAGAAGAAAAAAATG[A/T]ATTCATTAGACAATC | 4867 |
rs747304065 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170266 | AATTCAAGTCTTGGA[G/T]TCATCCATTCAGAAA | 4867 |
rs747310233 | snp | G/T | 1.64819e-05 | 0.00287066 | missense | NPHP1 | GRCh38.p7 | 2:110143566 | TTTCTTGATCTTCTG[G/T]TCAAGGATCTCAGTT | 4867 |
rs747360110 | snp | A/G | 0.000125526 | 0.0079213 | intron-variant, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110125190 | AAACCACGACTCACC[A/G]ATTAAAGCAAGTTCG | 4867 |
rs747397105 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163440 | ACCCTGCGCTTCCAT[A/T]TCACAGGTAAGTTAA | 4867 |
rs747422807 | snp | G/T | 1.65392e-05 | 0.00287564 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164735 | GGGGATCAGTTCTGG[G/T]GAGACAAAATAGCAA | 4867 |
rs747435046 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189963 | CCCTGAGCTAGACAT[A/T]AAGGTTCTCCAAGGC | 4867 |
rs747486170 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179133 | CTGGACATCTAGCTG[A/T]AGCCAAGGCTCATGT | 4867 |
rs747564969 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191056 | AAGATGGCCAAATAC[A/G]AACAACTCCAGTCTA | 4867 |
rs747642870 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150589 | GAGTCTCGCTCTGTC[A/G]CCCAGGCTGGAATGC | 4867 |
rs747650448 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186686 | CAAAGGAGCAGGTGT[C/G]TGTGAAAGCGATGTA | 4867 |
rs747679629 | snp | A/T | 5.08772e-05 | 0.00504341 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148057 | AATTAAAGTTATTGA[A/T]AAAAATAAAAAATGG | 4867 |
rs747685978 | snp | A/G | 1.64741e-05 | 0.00286998 | missense | NPHP1 | GRCh38.p7 | 2:110150241 | TGGCTCTGACTGTAT[A/G]AATGTTGCTCAGAAC | 4867 |
rs747688802 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173235 | AGCCACCGCACCTGG[A/C]CACATGCAGTGATTT | 4867 |
rs747697891 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180896 | GTGTGGTGTCTCAGC[A/G]GAGCAGCTGCTCAGG | 4867 |
rs747701082 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187724 | GCAAAAACAGAAAAC[C/T]TAAAGCCAATATCCT | 4867 |
rs747848168 | snp | C/G | 1.67978e-05 | 0.00289804 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178375 | ACATTAAAGCTATTG[C/G]TGATATATCTTTAAA | 4867 |
rs747861275 | in-del | -/C | 1.64931e-05 | 0.00287163 | splice-donor-variant | NPHP1 | GRCh38.p7 | 2:110146752 | TATATAGCCAACTTA[-/C]TTTGCTGGAATAGGA | 4867 |
rs747890517 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158519 | TATGTACCCACTTAG[G/T]ATTACTATGTCTTCT | 4867 |
rs747950591 | snp | A/G | 0.00023073 | 0.0107383 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178458 | TATTGTCACAGCAAG[A/G]CCCTGCAGTTGTTGG | 4867 |
rs748036762 | snp | C/T | 1.66944e-05 | 0.0028891 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164479 | ATGAATTATCTATTC[C/T]TTTTGTACAAAAAAA | 4867 |
rs748152745 | snp | A/G | 8.23635e-05 | 0.00641677 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123889 | ACAGCAGAGCTTGGA[A/G]GGCGCCCTGGTTTTC | 4867 |
rs748161984 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157562 | TGGTCCTCTTCCAGT[A/G]TTCCCCATCTCATTG | 4867 |
rs748170051 | in-del | -/A | 3.295e-05 | 0.00405881 | frameshift-variant, intron-variant | NPHP1 | GRCh38.p7 | 2:110164580 | ACATTCCATGCCCTG[-/A]AACCCTGTTTCAGAT | 4867 |
rs748197517 | snp | A/C | 3.3012e-05 | 0.00406262 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170007 | CCCAACTCTACAAAA[A/C]GTGTTTCTGAGTAGG | 4867 |
rs748201270 | snp | C/T | 1.8024e-05 | 0.00300195 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129273 | ATCTGAAATGCAAAA[C/T]AACAGAAAGAATTTT | 4867 |
rs748212606 | snp | A/G | 3.29728e-05 | 0.00406021 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110146791 | GGCATCAAAAAGTTT[A/G]AGAAACACCCAGCCA | 4867 |
rs748226197 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171944 | TGAAAGTGTTTCTTC[C/T]TTGTTCTCTGGAATG | 4867 |
rs748227465 | snp | G/T | 1.73246e-05 | 0.00294312 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204995 | CGGTGCTCTGATTGC[G/T]CCAGTTGCCAGGGAA | 4867 |
rs748257122 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152952 | AAAGACATAAACCTA[G/T]AGATTGAAGAAGCTG | 4867 |
rs748345770 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200486 | AAGAATCGCTTGAAC[C/T]TGGGAGGTGCAGGTT | 4867 |
rs748347638 | snp | A/G | 1.64961e-05 | 0.00287189 | missense | NPHP1 | GRCh38.p7 | 2:110168531 | TCAGGTTTTTTTTCA[A/G]TTACAAGGAGAATTT | 4867 |
rs748356803 | snp | A/G | 1.65053e-05 | 0.0028727 | missense | NPHP1 | GRCh38.p7 | 2:110169813 | CTACCTACCTTAAAT[A/G]TAAGATCTCCAACTT | 4867 |
rs748360112 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145660 | GCAACTTTTTCCATA[C/T]ACTAATACACTGAAA | 4867 |
rs748435719 | snp | A/G | 6.59207e-05 | 0.00574073 | missense | NPHP1 | GRCh38.p7 | 2:110160237 | GAATCAATGAAATAC[A/G]ACTTGGTCTCGACCT | 4867 |
rs748446911 | snp | C/G | 1.65493e-05 | 0.00287652 | missense | NPHP1 | GRCh38.p7 | 2:110161644 | GATCTCTGAAGGCCA[C/G]TTGTGAAGGCATGAG | 4867 |
rs748460584 | in-del | -/AT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194909 | AACGACAAAAACCAC[-/AT]ATGATTATCTCAATA | 4867 |
rs748503672 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177780 | GACAGTGTCTCACTC[C/T]GTTGCCCAGGCTGTG | 4867 |
rs748508934 | snp | C/T | 1.72609e-05 | 0.00293771 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131670 | AAGGAAGTGGCAAAG[C/T]CCACTTACCAGTACT | 4867 |
rs748524861 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141162 | AGGTGATTTCAAATG[C/T]CCCCTGATTTTACCA | 4867 |
rs748535643 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189694 | CATTTTACAGAGAGC[C/T]GAGTAGTCTGTTCTG | 4867 |
rs748547894 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124261 | TTACACAGAGTACAG[A/T]GGAGCAGTTCTCCCT | 4867 |
rs748557384 | snp | G/T | 4.61074e-05 | 0.0048012 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110179626 | CCTCAATACTTACTT[G/T]GCTTAATTTTTGAAG | 4867 |
rs748704846 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154190 | TGATGATTTTAAAAA[C/T]GGGAGTTTTCCCTGC | 4867 |
rs748734079 | snp | C/T | 2.11817e-05 | 0.00325429 | missense | NPHP1 | GRCh38.p7 | 2:110201424 | AGCATACTTTACCTT[C/T]GATAAATATGTTGTC | 4867 |
rs748759657 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131271 | GGATTCACCAATTTA[A/G]ACTAATCCATTTGAT | 4867 |
rs748764604 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146134 | CACCATCCTACTGCC[-/T]TGCCCATTTGTGTCC | 4867 |
rs748840285 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149093 | AATAAGGTAATGTAC[A/G]TAAGAGCCTGGCACA | 4867 |
rs748866765 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185367 | ATGAGGAACTACCCA[C/T]GATGGTGATGGCCTG | 4867 |
rs748875496 | snp | A/G | 1.65789e-05 | 0.0028791 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147908 | GCCTTATCTTTCAAC[A/G]GACATACATTGCGAA | 4867 |
rs748879613 | snp | C/T | 1.64789e-05 | 0.0028704 | missense | NPHP1 | GRCh38.p7 | 2:110165055 | CCACTTTTGTACCTT[C/T]GCTTAACTTCTGCTC | 4867 |
rs748915160 | snp | G/T | 0.00012518 | 0.00791039 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125256 | CAGGAGCAATGCATT[G/T]TTTTCAATATATGGT | 4867 |
rs748941996 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155340 | TCTGCTAGGGAAGTG[C/T]GAAAGGGAAATGTGG | 4867 |
rs748956406 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158124 | TCCATTTATCTTCCT[C/G]TTACTGATTTCAAAT | 4867 |
rs748969566 | snp | A/G | 1.66349e-05 | 0.00288395 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148034 | CGAGTAACCTGAAAT[A/G]ATAAAGAAATTAAAG | 4867 |
rs748984108 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162005 | GCAGAAATCTATGAG[A/C]ACTTTTTGGAGACTT | 4867 |
rs749032682 | in-del | -/C | 1.6495e-05 | 0.0028718 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160091 | ATGTTTCTCCATAAT[-/C]CTAGTATGAATTGAT | 4867 |
rs749086843 | snp | C/T | 1.64741e-05 | 0.00286998 | missense | NPHP1 | GRCh38.p7 | 2:110125665 | TTTAATGTGCTTTCT[C/T]TTCCAGCCCACGAAC | 4867 |
rs749094332 | snp | A/T | 6.61113e-05 | 0.00574903 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169989 | CTCTTCTTCAGTAGG[A/T]GCCCCAACTCTACAA | 4867 |
rs749183798 | snp | C/T | 1.69885e-05 | 0.00291444 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178361 | TGTCTTTGAGTTAAA[C/T]ATTAAAGCTATTGGT | 4867 |
rs749215532 | snp | C/T | 1.65556e-05 | 0.00287707 | missense | NPHP1 | GRCh38.p7 | 2:110163099 | ACCCTGCAGGAATAG[C/T]TCCCATCGTAGTTAA | 4867 |
rs749300737 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172027 | AGTAAAGCCACCTGA[A/G]AGTTTAATCTGTGGA | 4867 |
rs749307635 | snp | A/C | 1.66007e-05 | 0.00288098 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144485 | AAGACAACACATGAG[A/C]GCCATACCTCTTCTG | 4867 |
rs749372174 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182333 | CCAACACACATAATC[A/G]TGATTCTTCAAGGTC | 4867 |
rs749373399 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127328 | ATAAACCTGTGCTAA[A/C]CACCACAGCACAGCC | 4867 |
rs749404869 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165510 | AATAAAAGAAACATA[A/C]AAGCATTAGAAGAAA | 4867 |
rs749413985 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162765 | AACCAGTGTGGGGAA[G/T]GTGGGCCAGCTAAAG | 4867 |
rs749428729 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204752 | GGTGCTGGAATGTTA[-/T]GGGGTAAGGGGGCGT | 4867 |
rs749430948 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191333 | ATACTGCGCTTTTCC[C/T]ACAGTCTTAGCAAAC | 4867 |
rs749436123 | snp | A/G | 1.6522e-05 | 0.00287414 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123742 | ATTCACGTAATCGTG[A/G]AGGATCCATCTGATT | 4867 |
rs749453064 | snp | A/G | 3.40588e-05 | 0.00412653 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144590 | AAAGAATAACATACA[A/G]TGACAGATATAAGCT | 4867 |
rs749515088 | snp | C/T | 6.86766e-05 | 0.00585949 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204988 | CTGGCTGCGGTGCTC[C/T]GATTGCTCCAGTTGC | 4867 |
rs749550687 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143396 | CTTTGTTACCCATTT[C/G]CCTACTGACCTTTGG | 4867 |
rs749561170 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158410 | TAAACTCCCCAACTA[C/T]AATAGAGGCCCCAAC | 4867 |
rs749565591 | snp | A/G | 1.66571e-05 | 0.00288587 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168417 | AGCGAAAAAAAAAAA[A/G]GTCTTAGAAAAGGAA | 4867 |
rs749606788 | snp | C/G/T | 4.94844e-05 | 0.00497395 | missense, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110168521 | CCACCAACCATCAGG[C/G/T]TTTTTTTCAATTACA | 4867 |
rs749638730 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187965 | CAATAAAATTCAACA[G/T]CTTTTCATGTTAAGA | 4867 |
rs749638834 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206620 | ATTCTCAGTCTACAA[A/G]TAAATTAGAAAAAAT | 4867 |
rs749661590 | snp | A/G | 6.59457e-05 | 0.00574182 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150294 | GAAATCATGTAAAAA[A/G]CTCTTTGAAATGTCA | 4867 |
rs749670557 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138683 | CATGCTCATGTTCTG[C/T]CCTTTGGTCCACGGT | 4867 |
rs749689675 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188795 | ACTGGTAAAAGAACA[C/G]ACACATAGGCCAATG | 4867 |
rs749745570 | snp | A/G | 1.64781e-05 | 0.00287033 | missense | NPHP1 | GRCh38.p7 | 2:110160218 | TTACAGCTCCATAAT[A/G]TCAGAATCAATGAAA | 4867 |
rs749762144 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189316 | TTCCTTCTGACGTTC[A/G]GATGTGTTTGGAGTT | 4867 |
rs749787830 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167651 | TCATTCTAGTAAATT[A/C]CTGAACCCCTGAGGT | 4867 |
rs749837157 | snp | A/T | 1.8011e-05 | 0.00300087 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131644 | TCAGAGTATGAAGCA[A/T]TACTGCACATAAGGA | 4867 |
rs749844095 | snp | A/G | 1.64855e-05 | 0.00287097 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178489 | GTAAGCTTGTCCAAA[A/G]GAGTATGCTCCTCTT | 4867 |
rs749856016 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167470 | AATGATGGGGTTCCA[A/G]GAACTTCCAGGATGG | 4867 |
rs749923398 | snp | C/T | 7.67563e-05 | 0.00619453 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161716 | AAAAAATCATTTTTT[C/T]TTCATTTTCTTACAA | 4867 |
rs749925804 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140661 | CCAAAGATGTAGGAA[A/G]AATGAGGCCAAACAA | 4867 |
rs749963669 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142235 | CTATCAAAGGGAATT[C/G]AGATGCTCCTCAACT | 4867 |
rs750000098 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124627 | ACCCATGTCAAGCCC[C/T]GATGCCCACAGGCCA | 4867 |
rs750019395 | snp | A/G | 3.31279e-05 | 0.00406975 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143526 | ATTCACTGGACAGGT[A/G]AAAGCAGGTACCCAC | 4867 |
rs750048991 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135733 | TCTATCAAAAGGAAG[A/C]TGTCTTTGGGCTGAG | 4867 |
rs750110703 | snp | C/T | 2.02398e-05 | 0.00318112 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201537 | TATTAAATACCATAT[C/T]GCCTTAGGAAAGAAA | 4867 |
rs750113370 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143649 | GCCGTGTGCTTTTAA[C/G]AAAAATCAAAAGTAA | 4867 |
rs750137466 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140401 | GCAGTCCTGAGGTAT[A/G]GAGCACAAGGACACA | 4867 |
rs750182390 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124288 | CCCTGAGAGCCTCTA[C/T]GTGGCTCCATGAGAC | 4867 |
rs750200566 | snp | C/T | 3.32094e-05 | 0.00407475 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165013 | AAACAAATAAAATGT[C/T]TCCTAAACCTACTTT | 4867 |
rs750200627 | snp | C/G | 1.6912e-05 | 0.00290787 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204868 | GTCCGCCTGTCGCCC[C/G]CCCCAGGGCCCTCTG | 4867 |
rs750244324 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149772 | TGCTGACTCAGTGGT[G/T]TAAACCCACCTAATG | 4867 |
rs750291966 | snp | C/T | 6.62131e-05 | 0.00575345 | missense | NPHP1 | GRCh38.p7 | 2:110163096 | TGAACCCTGCAGGAA[C/T]AGCTCCCATCGTAGT | 4867 |
rs750343090 | snp | C/T | 1.64738e-05 | 0.00286995 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125652 | CTTCTCTGATCTTTT[C/T]AATGTGCTTTCTTTT | 4867 |
rs750389892 | snp | A/C | 1.64735e-05 | 0.00286993 | missense | NPHP1 | GRCh38.p7 | 2:110150192 | CTTACCTGGGGAGAA[A/C]AGGTCCATGTTTTGG | 4867 |
rs750409981 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181789 | TGGGATGATGCTGAG[A/G]TGGCTGAACTTACAG | 4867 |
rs750430573 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160744 | GATATATTTATTCAG[A/G]TCTGCTTCATAGGTA | 4867 |
rs750476470 | snp | G/T | 1.99858e-05 | 0.00316109 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129159 | TCCATAAGCCAGCAG[G/T]TTTCCATTGCAATGC | 4867 |
rs750499432 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134686 | ATGGCTCAACATCCA[A/G]AAATCAATCAACATA | 4867 |
rs750503200 | snp | G/T | 1.71088e-05 | 0.00292474 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178348 | CTATACTGCTATATG[G/T]CTTTGAGTTAAACAT | 4867 |
rs750563984 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175675 | TTGAGGTACCTGTGT[A/G]TGGGTTTCTTTATAT | 4867 |
rs750566255 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201782 | ACTAACTAAAGTTCA[A/G]TAGTTGATGTAAAAT | 4867 |
rs750637176 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187046 | AGGAAAATTTATATC[A/G]CTAAATGCCCACATC | 4867 |
rs750669622 | in-del | -/G | 1.66457e-05 | 0.00288489 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168415 | AAGCGAAAAAAAAAA[-/G]AAGTCTTAGAAAAGG | 4867 |
rs750769017 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167067 | ATAATATAAAATATA[C/T]TATTAAAAATAATTC | 4867 |
rs750772478 | snp | G/T | 4.94931e-05 | 0.00497434 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164516 | AACTAATGAGAAATG[G/T]TACTTGGAGCACAGG | 4867 |
rs750818055 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129054 | TGAGGACTGAGTTAC[C/T]TAGACAATGGATAGG | 4867 |
rs750873503 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184186 | TGGGCCTACCCATGC[A/C]TATTCGTATCATGGC | 4867 |
rs750886346 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159696 | TTAATAGTCTCACTA[C/T]GCATCTTTCAGTTTT | 4867 |
rs750895212 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144480 | AAAGGAAGACAACAC[A/G]TGAGAGCCATACCTC | 4867 |
rs750904140 | snp | A/T | 3.42841e-05 | 0.00414016 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204983 | TCTCCCTGGCTGCGG[A/T]GCTCTGATTGCTCCA | 4867 |
rs750940849 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150437 | CAGGTATGACATAAA[C/T]GAATTCAGAGTTGGA | 4867 |
rs751001238 | snp | C/T | 1.6489e-05 | 0.00287128 | missense | NPHP1 | GRCh38.p7 | 2:110168516 | GCTATCCACCAACCA[C/T]CAGGTTTTTTTTCAA | 4867 |
rs751003854 | snp | C/T | 9.93427e-05 | 0.00704709 | missense | NPHP1 | GRCh38.p7 | 2:110163090 | AAGGCCTGAACCCTG[C/T]AGGAATAGCTCCCAT | 4867 |
rs751092900 | snp | A/G | 4.96602e-05 | 0.00498274 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169770 | TTAGGTATGGACATC[A/G]ACCCTTAGGTTAGGT | 4867 |
rs751138426 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139407 | AATCTTGGTGAAACT[A/G]AAGCATCTATTTGCT | 4867 |
rs751152976 | snp | A/T | 1.74014e-05 | 0.00294965 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161586 | GTTACACTTTTACTG[A/T]TAGTAACTATACTTA | 4867 |
rs751181720 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110147302 | CTTTCCCCAGTCCTA[-/C]CCCCTCCACAATACA | 4867 |
rs751187755 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168961 | AGAATATCAATTCCA[C/T]TAAAGTTAAACCCTA | 4867 |
rs751188129 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171203 | ATGTTAGCTTGGGCA[C/T]GTCACTAAATCTTTC | 4867 |
rs751224004 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206269 | ACAGGCATGTTATAC[A/G]TCAGCTTTAGTAGAT | 4867 |
rs751241144 | snp | A/G | 1.70113e-05 | 0.00291639 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110131745 | GTCGATAAAATATCA[A/G]CAAGTGAATAGAACA | 4867 |
rs751270724 | snp | A/G | 1.763e-05 | 0.00296895 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161701 | GAAATTGATTCCCTG[A/G]AAAAATCATTTTTTC | 4867 |
rs751274148 | snp | C/T | 1.66299e-05 | 0.00288352 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143516 | ATGATCCCAAATTCA[C/T]TGGACAGGTAAAAGC | 4867 |
rs751299023 | snp | C/G | 4.30877e-05 | 0.00464133 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179733 | TTTCTATTATCAGAA[C/G]CAGAAAGCTATTTTA | 4867 |
rs751308494 | snp | C/G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180630 | GAAATATCCAGGTTC[C/G/T]CACATTGAGACTGAC | 4867 |
rs751387472 | snp | C/T | 1.68001e-05 | 0.00289823 | missense | NPHP1 | GRCh38.p7 | 2:110161685 | AAGAAGTAATTTGCT[C/T]GAAATTGATTCCCTG | 4867 |
rs751388694 | snp | C/T | 3.29522e-05 | 0.00405894 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110164655 | TATTAGGTAGCAAAA[C/T]GAGACATGATTAACA | 4867 |
rs751440951 | snp | A/G | 9.88403e-05 | 0.00702925 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123866 | AGGTTCATGAACTCC[A/G]TCTGGTGACAGCAGA | 4867 |
rs751443096 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186966 | ATCAAGAAGTTCTTT[-/G]AAACTAATGAGAACA | 4867 |
rs751480859 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178339 | TGTTTATATCTATAC[C/T]GCTATATGTCTTTGA | 4867 |
rs751510316 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154212 | TTTCCCTGCACAAGC[A/G]CTCTTCTCTTGTCTG | 4867 |
rs751562412 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132398 | GGTGGCTCACACCTG[A/T]AATCCTAACACTTTG | 4867 |
rs751572152 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186209 | CTCTTGCTCACTGCC[A/G]TAGAATCAACAGGCT | 4867 |
rs751573536 | snp | C/T | 3.37223e-05 | 0.00410609 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147882 | TTCCCTTTTAACTGA[C/T]ACATTAGAAAGCCTT | 4867 |
rs751638917 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178192 | TTCAGATCTCTGTTT[C/T]GTTTCAACTAAATTA | 4867 |
rs751801179 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185149 | GAATATGAGGAAGAC[A/G]GTGCCTGATCTATCC | 4867 |
rs751809374 | snp | A/G | 1.71399e-05 | 0.0029274 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178343 | TATATCTATACTGCT[A/G]TATGTCTTTGAGTTA | 4867 |
rs751815112 | in-del | -/TT/TTT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156780 | GTGTTTTGGTTTCTG[-/TT/TTT]TTTTTTTTTTTTTTT | 4867 |
rs751837635 | snp | C/T | 2.06239e-05 | 0.00321115 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129146 | GTGTATAACTGCTTC[C/T]ATAAGCCAGCAGGTT | 4867 |
rs751843842 | snp | G/T | 6.65059e-05 | 0.00576616 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124102 | ATAACATTGTTATTT[G/T]TAAAGTGTTAAATTC | 4867 |
rs751849095 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158037 | AATATTTTCTAATTT[A/C]CCATGAAATTTCCTT | 4867 |
rs751898998 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149226 | TGAAAAAGTTTCCAC[A/G]TGCCTAGGAAAAAAT | 4867 |
rs751934479 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142929 | GGCACATGCAATGGC[A/G]TGGGTAAGTCTCAAA | 4867 |
rs751935599 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144108 | TCTAGCACAGTGCCT[C/G]GTTAATGAACATAGT | 4867 |
rs752016888 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197716 | TGAGGATATCACAAG[A/C]CATGAATCCACCCTG | 4867 |
rs752022046 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199653 | ATCTCCCATACAAAC[-/A]AAGAAACAGAAACTA | 4867 |
rs752023365 | snp | C/T | 1.65564e-05 | 0.00287714 | missense | NPHP1 | GRCh38.p7 | 2:110144534 | TCAATACCTTTTTCA[C/T]AAGGAGTACCACCAT | 4867 |
rs752024092 | snp | A/G | 1.64795e-05 | 0.00287045 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143691 | TTAAGTACTTGAGAC[A/G]GTGAGTATAATAAAA | 4867 |
rs752064114 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144891 | ATTAATGACAAGTGA[-/T]TTTTTTTTAATGTAT | 4867 |
rs752066638 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157137 | CTTACATAAACAGCA[C/T]GAGTATCTGTGCAGC | 4867 |
rs752078058 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181622 | AAAAACTCAACAAAA[A/G]TCCTATTTAAAGGTC | 4867 |
rs752104780 | in-del | -/T | 6.63548e-05 | 0.0057596 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124098 | CAAATAACATTGTTA[-/T]TTTTTAAAGTGTTAA | 4867 |
rs752113133 | snp | C/T | 1.64779e-05 | 0.00287031 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123828 | TCACCCAAGAAGTCA[C/T]AGGTCTGCTCTGAAA | 4867 |
rs752133948 | snp | A/G | 4.94825e-05 | 0.00497381 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165163 | CTATAAGGCTAAAAA[A/G]CCATTGAAATGTGAA | 4867 |
rs752149746 | snp | A/G | 1.67539e-05 | 0.00289425 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204888 | AGGGCCCTCTGCACA[A/G]CCTGACCATACCTGT | 4867 |
rs752154310 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168745 | ACTCACCTAAAACCA[C/T]AAATGTGACATAGTT | 4867 |
rs752192873 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206198 | GCTAGTATAAATAGC[A/G]CTGCTAAGAACGTCC | 4867 |
rs752215103 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127835 | AGGTGCAGATTCCTG[C/T]TACACACCTAGGGAA | 4867 |
rs752241448 | snp | A/T | 3.37855e-05 | 0.00410994 | missense | NPHP1 | GRCh38.p7 | 2:110204968 | GTCGTCTCGCCAGCA[A/T]CTCCCTGGCTGCGGT | 4867 |
rs752303904 | snp | C/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123931 | TAAGGAAGTCAGTGA[C/T]AACTTTCCACCGTGC | 4867 |
rs752341631 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128054 | CAGGAGATCATATGT[A/G]CCATGAACATTTTCT | 4867 |
rs752414147 | snp | A/G | 1.64779e-05 | 0.00287031 | missense | NPHP1 | GRCh38.p7 | 2:110160167 | CGTACATGTCTGCTG[A/G]GAACCTGTATGCTCA | 4867 |
rs752426379 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183127 | CCCAAAAAAAGAGCA[A/C]CCATGTTGGGAAGAG | 4867 |
rs752429534 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128899 | CCATTTTGGATTTTT[C/G]CTCTTAGGACACAAT | 4867 |
rs752453715 | snp | G/T | 1.92417e-05 | 0.00310169 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129302 | TTATGCAAACTTCAC[G/T]CAATGGATTTTATTG | 4867 |
rs752474583 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176621 | TACACAGTTAAATTA[C/T]CTTGTTCCTGATAAG | 4867 |
rs752474724 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189286 | AGTTCTTAAAGGCGG[C/T]GTGTCCAGAGTTTGT | 4867 |
rs752492299 | in-del | -/TT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151328 | TTGAAATTCAATCTC[-/TT]ATAAAATGCTCTATG | 4867 |
rs752515999 | snp | C/T | 1.65712e-05 | 0.00287843 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178559 | CAGCCTATGAGAGAA[C/T]ATAGGTCTATTTCAC | 4867 |
rs752549304 | snp | A/T | | | stop-gained | NPHP1 | GRCh38.p7 | 2:110160227 | CATAATGTCAGAATC[A/T]ATGAAATACGACTTG | 4867 |
rs752577090 | in-del | -/TCATGAGTATATG | 3.36802e-05 | 0.00410353 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168598 | AATAAAATTCAATAA[-/TCATGAGTATATG]TCAATACCAATGATT | 4867 |
rs752639812 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185019 | TTGGTGACAGGCTAC[C/T]GAGTGAAGTGAAGAT | 4867 |
rs752699836 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110147315 | TACCCCCTCCACAAT[A/G]CATATGGATGAATTT | 4867 |
rs752708835 | snp | C/T | 4.82102e-05 | 0.00490946 | splice-acceptor-variant, intron-variant | NPHP1 | GRCh38.p7 | 2:110179685 | TTTAACTGGATACAT[C/T]TAAATTAAGAAAAAA | 4867 |
rs752770455 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201154 | ACAGAGGTTTCTGAC[C/G]AGGTCACAGGATCTG | 4867 |
rs752796258 | snp | C/T | | | intron-variant, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110124546 | GCCTGGGATGGAGGT[C/T]GAGGGGTCCTTTGGT | 4867 |
rs752801628 | snp | C/T | 3.29516e-05 | 0.00405891 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110164643 | TCGCATCAGAACTAT[C/T]AGGTAGCAAAACGAG | 4867 |
rs752872120 | snp | A/C | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206884 | TCATTACTTGCGATT[A/C]CTAGATCAGCATCAT | 4867 |
rs752873511 | snp | A/G | 1.66443e-05 | 0.00288477 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124107 | ATTGTTATTTTTAAA[A/G]TGTTAAATTCTGTGA | 4867 |
rs752890502 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148346 | TGGAAGCTTCCTGAG[G/T]CCTCCCTAGAAGCTG | 4867 |
rs752934898 | in-del | -/AGAA | 1.81095e-05 | 0.00300906 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129277 | GAAATGCAAAACAAC[-/AGAA]AGAATTTTATGCAAA | 4867 |
rs752979255 | snp | A/C | 0.000148617 | 0.00861895 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110147979 | AGATGCAGAATTAGA[A/C]CTGATAAAGCAATCA | 4867 |
rs753019948 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141171 | CAAATGCCCCCTGAT[C/T]TTACCAGCTACACAT | 4867 |
rs753088843 | snp | C/T | 1.65551e-05 | 0.00287702 | missense | NPHP1 | GRCh38.p7 | 2:110169916 | TCTCTTCCTCTTCCT[C/T]CTCTGCATCTTCTTC | 4867 |
rs753098015 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155309 | TGCTGCAGGGGCGGG[A/G]CTCTCATGGAGAATC | 4867 |
rs753148814 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132341 | CTTGCATTTCAGAAG[G/T]TTACTAAAAGGATTA | 4867 |
rs753180812 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161729 | TTCTTCATTTTCTTA[C/T]AAAGAAAGAAACTCC | 4867 |
rs753217985 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110136294 | CTCTCACCACTCCTA[C/T]TCAACATAGTGTTGG | 4867 |
rs753234471 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201697 | TCTATCCGTCAACCC[-/A]ACCTTATGCCTTTCA | 4867 |
rs753244063 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174620 | AAACTTTATTTGTAA[A/C]CTCCTAATTAATACT | 4867 |
rs753280266 | snp | A/G | 0.00016544 | 0.00909354 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202413 | GCCTGACTCAGAGGG[A/G]CTGTTGATTACTTGT | 4867 |
rs753351774 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127926 | TGTTGAAGAATCAGT[A/G]TATATATGTTCTGTG | 4867 |
rs753353096 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161112 | TTGAGGTTACAGTGA[A/G]CCATGATCACACCAC | 4867 |
rs753354565 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126566 | CCTCCACCCTATTAA[C/T]TGCTGTGCTATGGGT | 4867 |
rs753369596 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143738 | ATATACCACCCAGTA[C/G]TGCTGAATTGAATGA | 4867 |
rs753406517 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183033 | TAAGCCAATAAAGAT[A/T]AAAAAAAGACAAAGA | 4867 |
rs753489903 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142655 | CCATGCCCAGCCTAC[A/G]ACTAGTCTACTGAAC | 4867 |
rs753514854 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180881 | CCAATACACAGAACT[A/G]TGTGGTGTCTCAGCA | 4867 |
rs753517219 | snp | C/T | 1.64789e-05 | 0.0028704 | missense | NPHP1 | GRCh38.p7 | 2:110165137 | TTGACTCTTGGCCTT[C/T]TTCTTCTTCACTATA | 4867 |
rs753549193 | snp | C/T | 8.2411e-05 | 0.00641862 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123807 | CACACTGCATTCTTT[C/T]TCATTTCACCCAAGA | 4867 |
rs753550530 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133551 | GCTGACATTTACAAA[A/G]CACTCTACCCGGCAA | 4867 |
rs753605280 | snp | A/C/G | 4.94664e-05 | 0.00497305 | missense | NPHP1 | GRCh38.p7 | 2:110168472 | GGTAGGTTCTGGGAA[A/C/G]AAGACCTTCATTTCC | 4867 |
rs753607290 | snp | C/T | 4.94197e-05 | 0.00497066 | stop-gained | NPHP1 | GRCh38.p7 | 2:110150221 | GGGCTTTTTAGGTTG[C/T]CATGTGGCTCTGACT | 4867 |
rs753643526 | in-del | -/ACT | 1.66225e-05 | 0.00288287 | cds-indel | NPHP1 | GRCh38.p7 | 2:110169941 | TTCTTCCTCCCCACC[-/ACT]GTCTTCACTATCTTC | 4867 |
rs753682916 | snp | C/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205933 | CCTCTCACTTCTCTA[C/G]CACACACCAAAGGTG | 4867 |
rs753700300 | snp | A/G | 4.94376e-05 | 0.00497156 | missense | NPHP1 | GRCh38.p7 | 2:110160153 | CAAATAGACAGAGGC[A/G]TACATGTCTGCTGAG | 4867 |
rs753738542 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188367 | GCATTCCTATATACC[A/T]ACAACAGGCAGGCAG | 4867 |
rs753796140 | snp | A/C | | | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164540 | GCACAGGCTTAGAAA[A/C]CAGAAATATACGTCC | 4867 |
rs753861532 | snp | C/T | 1.6486e-05 | 0.00287102 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178433 | CATACTCAGTTATAT[C/T]TTCTCTGCTTATTGT | 4867 |
rs753872810 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127202 | ACAGAGGCAGCTACT[G/T]GTTCCAGATGGTGCT | 4867 |
rs753915117 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145448 | GGCGTGTGCCACCAT[C/G]CTTGGCTAATTTTTT | 4867 |
rs753934202 | snp | A/G | 1.73815e-05 | 0.00294795 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163176 | TTTGTTTTCAGTCAT[A/G]TTTCTGCATCTCTAT | 4867 |
rs753950057 | snp | C/T | 1.65195e-05 | 0.00287393 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178547 | GTGCAGATTCATCAG[C/T]CTATGAGAGAATATA | 4867 |
rs753992370 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199499 | TTAAAGTCAAGAGAA[C/T]TGCTAGCATGGTAGC | 4867 |
rs754003103 | in-del | -/AA | 0.00468399 | 0.048167 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164488 | CTATTCTTTTTGTAC[-/AA]AAAAAAAAAAAAACT | 4867 |
rs754027663 | snp | C/T | 1.64852e-05 | 0.00287094 | missense | NPHP1 | GRCh38.p7 | 2:110146774 | GGAATAGGAACTCCA[C/T]TGGCATCAAAAAGTT | 4867 |
rs754041659 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176167 | TTGCTAATTCTCACA[C/T]CTCCGAGCTACTGAT | 4867 |
rs754086797 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185025 | ACAGGCTACTGAGTG[A/G]AGTGAAGATCAGGAT | 4867 |
rs754107455 | snp | C/T | | | missense | NPHP1 | GRCh38.p7 | 2:110131742 | TTTGTCGATAAAATA[C/T]CAACAAGTGAATAGA | 4867 |
rs754137355 | in-del | -/T | 1.69126e-05 | 0.00290792 | frameshift-variant | NPHP1 | GRCh38.p7 | 2:110131685 | CCCACTTACCAGTAC[-/T]TTGCAAGCTCATCCT | 4867 |
rs754148625 | snp | A/G | | | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123014 | CTACAGTAGGTGTGA[A/G]GATTAACTGGGCTAA | 4867 |
rs754165773 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130158 | CCTCATGGCCTAATC[A/G]CCACTCAAAGGCCCC | 4867 |
rs754169705 | snp | A/G | 1.64735e-05 | 0.00286993 | synonymous-codon, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123974 | TTCTTCTGCCCACCT[A/G]AATGGGGGTAGGCGT | 4867 |
rs754198831 | snp | C/T | 6.62274e-05 | 0.00575407 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146855 | GAAATAAGACAAGTA[C/T]ATGAAACTTAAGGTC | 4867 |
rs754265245 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170978 | TACCTTTAAAGTCGC[A/C]CCTAAAAATGAGTAG | 4867 |
rs754292506 | snp | C/T | 3.68528e-05 | 0.00429244 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129183 | GCAATGCATGCTACC[C/T]ACCCTGAGAGCATCC | 4867 |
rs754294145 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146910 | ATACCAAGTCCTTTT[A/C]AAGGAACAAAATTAG | 4867 |
rs754307135 | snp | C/T | 3.30453e-05 | 0.00406467 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169798 | GGTTTCAGTCTTATT[C/T]TACCTACCTTAAATG | 4867 |
rs754327891 | snp | C/T | 1.65209e-05 | 0.00287405 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169896 | GTGAGATTCATTTTC[C/T]TCTTTCTCTTCCTCT | 4867 |
rs754353615 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171806 | CTTTTGAAATGCCTC[C/T]AGATTTTACTTGCTA | 4867 |
rs754422464 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184289 | TCTCACGGAGCATGG[C/G]ATTGTCAAGGACTGG | 4867 |
rs754474717 | in-del | -/CT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167660 | TAAATTACTGAACCC[-/CT]GAGGTGATGGTATGG | 4867 |
rs754530171 | snp | A/G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110192154 | AGAACAAAGCTGGAC[A/G/T]GAGAATGACTTTCAT | 4867 |
rs754533046 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127940 | TGTATATATGTTCTG[G/T]GTAATGAATAATTAT | 4867 |
rs754535615 | snp | G/T | 1.64784e-05 | 0.00287035 | missense | NPHP1 | GRCh38.p7 | 2:110165058 | CTTTTGTACCTTTGC[G/T]TAACTTCTGCTCCAT | 4867 |
rs754550999 | snp | C/T | 1.64789e-05 | 0.0028704 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110165138 | TGACTCTTGGCCTTC[C/T]TCTTCTTCACTATAA | 4867 |
rs754561304 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203405 | ATGTACCCCCTGAAT[C/G]TAAAATAAAAGTTGA | 4867 |
rs754638980 | in-del | -/CA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193956 | GATGTTCTTTGAAAC[-/CA]ACGAGAACAAAGCCA | 4867 |
rs754641229 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158687 | AGTCTCTCTCACTGT[A/G]GTTTTCATTTGCATT | 4867 |
rs754678567 | in-del | -/AGTC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135198 | ATAGCATCAAAAAAT[-/AGTC]AGAAATTTAAAAATA | 4867 |
rs754683200 | snp | C/T | 4.94197e-05 | 0.00497066 | missense | NPHP1 | GRCh38.p7 | 2:110150229 | TAGGTTGCCATGTGG[C/T]TCTGACTGTATGAAT | 4867 |
rs754685944 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174655 | GTGCTTTTGTGGTCA[C/T]TTGTGGACATACACA | 4867 |
rs754768821 | snp | C/T | 1.64795e-05 | 0.00287045 | missense | NPHP1 | GRCh38.p7 | 2:110160161 | CAGAGGCGTACATGT[C/T]TGCTGAGAACCTGTA | 4867 |
rs754770862 | snp | A/C | 1.8002e-05 | 0.00300011 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110129192 | GCTACCCACCCTGAG[A/C]GCATCCATCACATCA | 4867 |
rs754816546 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127206 | AGGCAGCTACTTGTT[C/T]CAGATGGTGCTGTGA | 4867 |
rs754852726 | in-del | -/A | 1.66069e-05 | 0.00288152 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143650 | CCGTGTGCTTTTAAG[-/A]AAAATCAAAAGTAAC | 4867 |
rs754913403 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150472 | TATGCTAGTAATAAA[A/T]TATATTAAGTGAATT | 4867 |
rs754926099 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152350 | GCTTCAACACAACCA[C/T]TCTGCTCCACATATG | 4867 |
rs754996574 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133561 | ACAAAACACTCTACC[C/T]GGCAACAGCAGAATA | 4867 |
rs754998988 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181516 | AGGCAATTAGGGTCT[-/G]GGGTACAGCAAACCA | 4867 |
rs755025861 | snp | A/G/T | 6.84163e-05 | 0.00584843 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144596 | TAACATACAATGACA[A/G/T]ATATAAGCTGTGGGC | 4867 |
rs755027994 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202674 | TAAATTTAAAATTAA[C/T]TCATCATGACTAATC | 4867 |
rs755051855 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199846 | TCAGAGCACTGAGCA[A/G]ATAAAAATGATACCT | 4867 |
rs755080643 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110147188 | TTTCACTGACAGATA[G/T]AATGCAGATATTAAT | 4867 |
rs755118744 | snp | G/T | 1.64846e-05 | 0.0028709 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164534 | CTTGGAGCACAGGCT[G/T]AGAAACCAGAAATAT | 4867 |
rs755120134 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181211 | GCCATTCTAGCCTGC[-/T]TGGCTTTGGAGAATA | 4867 |
rs755130089 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158444 | AATTGTGACTTTGTC[A/G]GTTTCTCTTTTCAGT | 4867 |
rs755208920 | snp | A/C | 1.72068e-05 | 0.00293311 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204990 | GGCTGCGGTGCTCTG[A/C]TTGCTCCAGTTGCCA | 4867 |
rs755276263 | snp | G/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123979 | CTGCCCACCTGAATG[G/T]GGGTAGGCGTGTGGA | 4867 |
rs755292906 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159873 | CCTCTTGATTTGCTA[G/T]CTTAGATCACTGACT | 4867 |
rs755314398 | snp | C/T | 1.65214e-05 | 0.0028741 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169799 | GTTTCAGTCTTATTC[C/T]ACCTACCTTAAATGT | 4867 |
rs755343407 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171018 | ATGATATGATTCCCA[C/G]TTTAGAAAGGAGACA | 4867 |
rs755363483 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110137675 | AAAAGTCAGGAAACA[A/G]CAGGTGCTGGAGAGG | 4867 |
rs755385964 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184434 | GAATGAGCTGCCAAC[A/G]TTTTCTTCAAGAGCT | 4867 |
rs755476793 | snp | C/T | | | missense | NPHP1 | GRCh38.p7 | 2:110169901 | ATTCATTTTCCTCTT[C/T]CTCTTCCTCTTCCTC | 4867 |
rs755503853 | snp | A/C | 1.66208e-05 | 0.00288273 | missense | NPHP1 | GRCh38.p7 | 2:110161620 | TGCCTTCTGTAGCAT[A/C]CCACATCAGATCTCT | 4867 |
rs755509108 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124755 | ACATAAGGGCAATGT[C/G]TACAGGCCCAAGGCT | 4867 |
rs755542692 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169440 | TAAGCCCCTCTCATA[G/T]CTAAGCTAACAGGAA | 4867 |
rs755592231 | snp | C/T | 1.91948e-05 | 0.00309791 | missense | NPHP1 | GRCh38.p7 | 2:110131780 | TTTCCAATTAATGTT[C/T]CTGGCAGTAGACTAT | 4867 |
rs755598404 | snp | C/T | 0.000115232 | 0.00758964 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161717 | AAAAATCATTTTTTC[C/T]TCATTTTCTTACAAA | 4867 |
rs755646440 | snp | G/T | 2.57086e-05 | 0.0035852 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201390 | TGTAAGTGCGGTTCC[G/T]GTAAAGCTTATATAA | 4867 |
rs755669594 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126329 | TGCATGTCAGTAGAT[A/G]TCCTCCTGTTGGCAC | 4867 |
rs755703456 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189556 | GTAGCAAGATTTATT[G/T]CAAACAGCGAAAGAA | 4867 |
rs755714371 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158035 | AAAATATTTTCTAAT[C/T]TCCCATGAAATTTCC | 4867 |
rs755734509 | snp | A/G | 0.000122717 | 0.0078322 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201538 | ATTAAATACCATATC[A/G]CCTTAGGAAAGAAAA | 4867 |
rs755736458 | snp | C/T | 1.64866e-05 | 0.00287106 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110164697 | GCCCGCCTCTGAAAT[C/T]GCTTTCTGAACAGCA | 4867 |
rs755759511 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139555 | TCACAGGATTCCTGA[C/T]ATCCAAAAGATATAC | 4867 |
rs755787138 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188755 | AAACTATATTACAAG[G/T]CTACAGTAACTAAAA | 4867 |
rs755793101 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155171 | GGGTGCAAGCCCAAA[C/T]TCTTGGCAGCTTCCA | 4867 |
rs755804569 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150026 | TTACTAACATTGGTG[A/G]GTCAGAAACATGAGT | 4867 |
rs755826024 | snp | A/G | 1.65231e-05 | 0.00287424 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165024 | ATGTTTCCTAAACCT[A/G]CTTTGATATCCTTTC | 4867 |
rs755837649 | in-del | -/AAGT | 1.65522e-05 | 0.00287677 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164750 | GGAGACAAAATAGCA[-/AAGT]GAGTCAGGTCAGGTT | 4867 |
rs755906495 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180448 | TATGCCGTTTGAGTC[-/T]TTTTTTTTTTTTTTT | 4867 |
rs755912374 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132461 | GGAGTTTGAGACCAG[C/G]CTGGCCAACATGGTG | 4867 |
rs755919851 | snp | C/G/T | 1.64923e-05 | 0.00287156 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178424 | GAAAGGAAGCATACT[C/G/T]AGTTATATTTTCTCT | 4867 |
rs755940321 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160855 | TCTGCTTTACGGTCA[C/T]AAGCCTTTTCATTTA | 4867 |
rs755943785 | snp | C/T | 4.9722e-05 | 0.00498583 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110148023 | ATGGTAAGATGCGAG[C/T]AACCTGAAATGATAA | 4867 |
rs755958462 | snp | A/C | 1.64735e-05 | 0.00286993 | missense | NPHP1 | GRCh38.p7 | 2:110150199 | GGGGAGAAAAGGTCC[A/C]TGTTTTGGGCTTTTT | 4867 |
rs756017460 | in-del | -/TT | 3.30688e-05 | 0.00406612 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169785 | GACCCTTAGGTTAGG[-/TT]TCAGTCTTATTCTAC | 4867 |
rs756032232 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124425 | AATGCCAAGTCAGCT[A/G]AACCTACTTACTGAC | 4867 |
rs756108204 | in-del | -/GAAACTA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188956 | TATACGCAGAAAATT[-/GAAACTA]GAACCCCTTCCATAC | 4867 |
rs756135339 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158270 | AGAGAAAGTGTATTT[G/T]ACTATTTTGAGGTGA | 4867 |
rs756140498 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148849 | TTATTTTCTCTTTTG[C/T]TCATTCAATTCACTC | 4867 |
rs756174885 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202920 | AGAAATCCCATTTCC[A/G]TGTATATACCCCCAA | 4867 |
rs756271824 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172891 | ACTGTTATATTTTCT[C/T]TGACTCACAGTTTAT | 4867 |
rs756293150 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110195681 | ATGGAACCAAAAAAG[A/T]GCCCACATTACCAAG | 4867 |
rs756307916 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187264 | TTAATAAAATAGATA[C/G]ACCACTAGCTAGACT | 4867 |
rs756324263 | snp | G/T | 0.000274193 | 0.0117056 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163165 | ATCAAAATGGATTTG[G/T]TTTCAGTCATGTTTC | 4867 |
rs756334227 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142948 | GTAAGTCTCAAATGC[A/G]CTAGGCTAAGTGAAA | 4867 |
rs756338676 | in-del | -/AA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187081 | AGCTAGAAAGATCTC[-/AA]GTTAACAACCTAACA | 4867 |
rs756376874 | snp | C/T | 1.68151e-05 | 0.00289953 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144573 | AGCTCATAAGTTCTA[C/T]AAAAGAATAACATAC | 4867 |
rs756397209 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157409 | AATGTATTATGGAAG[C/T]GAGGGAGGATTACCG | 4867 |
rs756424218 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146481 | GGTGAAATGTGTTAA[C/T]ACCATAGGAAATTAC | 4867 |
rs756430550 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174389 | TCTTTGTATTATTTT[A/G]TTAGTGATTGTTTTA | 4867 |
rs756434801 | snp | A/C | 3.34046e-05 | 0.00408671 | missense | NPHP1 | GRCh38.p7 | 2:110204910 | CATACCTGTTGCTTC[A/C]GCTCCTGATTGCGGC | 4867 |
rs756468448 | snp | A/T | 1.64741e-05 | 0.00286998 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123872 | ATGAACTCCGTCTGG[A/T]GACAGCAGAGCTTGG | 4867 |
rs756468587 | snp | C/G | 1.64882e-05 | 0.00287121 | missense | NPHP1 | GRCh38.p7 | 2:110146766 | ACTTTGCTGGAATAG[C/G]AACTCCACTGGCATC | 4867 |
rs756532739 | in-del | -/A | 0.000173747 | 0.00931897 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129304 | ATGCAAACTTCACTC[-/A]ATGGATTTTATTGCA | 4867 |
rs756567611 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128328 | CCTTCCTGGGTTACC[C/T]ACCACCTACCACCGC | 4867 |
rs756580864 | snp | A/C/G | 1.67259e-05 | 0.00289183 | synonymous-codon, stop-gained | NPHP1 | GRCh38.p7 | 2:110144563 | ATTCAAGAAAAGCTC[A/C/G]TAAGTTCTATAAAAG | 4867 |
rs756626725 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198163 | GAAGCATGTTCTCCT[A/G]TAAAGGGTGGAAGAC | 4867 |
rs756635940 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128378 | CTCAGGCTTACCTTG[C/T]CCATCTACCAACCAC | 4867 |
rs756688256 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185270 | TGTGAGGAATTGCCT[A/G]TGTGTGTGAGTGCAT | 4867 |
rs756746989 | snp | A/G | 1.65307e-05 | 0.0028749 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169789 | CTTAGGTTAGGTTTC[A/G]GTCTTATTCTACCTA | 4867 |
rs756798941 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131493 | AACTGAATATGTGTC[A/G]AGTTCACAAAGCTCA | 4867 |
rs756812918 | snp | A/G | 0.000138341 | 0.00831574 | missense | NPHP1 | GRCh38.p7 | 2:110131756 | ATCAACAAGTGAATA[A/G]AACACATATTTCCAA | 4867 |
rs756820379 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140604 | ACATGGGAGTGCTTC[C/T]GGACTCTTGGAAGCT | 4867 |
rs756832841 | snp | A/T | 5.15557e-05 | 0.00507693 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161592 | CTTTTACTGATAGTA[A/T]CTATACTTACAGTGC | 4867 |
rs756833737 | snp | G/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206341 | ATCAGCAGTGTATGA[G/T]TTTTTGTTCTTTATG | 4867 |
rs756837324 | snp | C/T | 1.68735e-05 | 0.00290456 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178596 | ATTAATTTCAGTTTC[C/T]TAATTTCAAAAGAAC | 4867 |
rs756844449 | snp | A/T | | | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147803 | CTCATTCCTCAAGGG[A/T]TTAAAATTCAATTAC | 4867 |
rs756921323 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153799 | CTAGCCTGGCCAACA[A/T]GGTGAAACCCCATCT | 4867 |
rs756970881 | snp | C/T | 4.33774e-05 | 0.00465691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179734 | TTCTATTATCAGAAC[C/T]AGAAAGCTATTTTAT | 4867 |
rs757031925 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201353 | GGACCAATCTCTATG[C/G]CTTAAATACTATGCA | 4867 |
rs757033955 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130838 | AGAAGCCTTTCCTTA[C/T]CCTACACATTAATCA | 4867 |
rs757063331 | snp | C/G | | | missense | NPHP1 | GRCh38.p7 | 2:110163060 | TACCTTCCTCCAGAA[C/G]CTGTGAGAGCGTGGA | 4867 |
rs757090423 | snp | A/G | 4.94279e-05 | 0.00497107 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164656 | ATTAGGTAGCAAAAC[A/G]AGACATGATTAACAA | 4867 |
rs757103125 | snp | G/T | 1.67024e-05 | 0.0028898 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165005 | ATAAAAATAAACAAA[G/T]AAAATGTTTCCTAAA | 4867 |
rs757139057 | in-del | -/CT | 1.66568e-05 | 0.00288585 | frameshift-variant | NPHP1 | GRCh38.p7 | 2:110169942 | TCTTCCTCCCCACCA[-/CT]GTCTTCACTATCTTC | 4867 |
rs757153141 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148591 | TCATCAATGCCAATG[A/C]TTACAAATTTTAAAA | 4867 |
rs757158205 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156232 | CAGGCACATGCCACC[-/A]ATGGGGGCAGGTCTT | 4867 |
rs757182221 | snp | C/T | 1.6863e-05 | 0.00290365 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147884 | CCCTTTTAACTGATA[C/T]ATTAGAAAGCCTTAT | 4867 |
rs757234351 | snp | A/G | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124562 | GAGGGGTCCTTTGGT[A/G]ATGAGGATGTCAGAC | 4867 |
rs757281174 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133321 | AGACAAAGGATATTG[C/T]ACAATCATAAAACAG | 4867 |
rs757295724 | in-del | -/T | 4.47928e-05 | 0.00473227 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131795 | TCTGGCAGTAGACTA[-/T]TAAAGAAGAAAAAAA | 4867 |
rs757316427 | snp | C/T | 0.000124665 | 0.00789411 | intron-variant, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125204 | CGATTAAAGCAAGTT[C/T]GGATTGGTAATTACC | 4867 |
rs757349419 | snp | C/T | 1.66043e-05 | 0.00288129 | missense | NPHP1 | GRCh38.p7 | 2:110169951 | CCACCACTGTCTTCA[C/T]TATCTTCACTTTCAC | 4867 |
rs757410501 | snp | G/T | 1.64738e-05 | 0.00286995 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125643 | ATATTTTACCTTCTC[G/T]GATCTTTTTAATGTG | 4867 |
rs757412047 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185187 | AACCTTCTAATGTTG[A/G]GATATCATCTTCACC | 4867 |
rs757440686 | snp | C/T | 1.71255e-05 | 0.00292617 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178346 | ATCTATACTGCTATA[C/T]GTCTTTGAGTTAAAC | 4867 |
rs757442127 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202675 | AAATTTAAAATTAAC[A/T]CATCATGACTAATCA | 4867 |
rs757541074 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186252 | GATTTTCTGAAACAG[A/G]AGGTAGAATTTTTCT | 4867 |
rs757570847 | snp | A/G | 0.00050306 | 0.0158517 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144446 | CTCTCAGATGCTTCT[A/G]TTTGTTTAATCTTTA | 4867 |
rs757612416 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110195019 | ATCTCAAAATAATAA[C/G]AGCTATCTAAGACAA | 4867 |
rs757664142 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197770 | GTCAAATGAGACTGA[C/G]AGTAAAGCCGCTTAT | 4867 |
rs757675015 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157330 | ATGTATGAAACAGAA[A/T]CCAATTCAGCTCTTG | 4867 |
rs757721377 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128111 | ATTACTATTGACACC[C/T]CCCAACCCAGCCAAG | 4867 |
rs757774542 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191087 | CAGCTCCCAGAGTGA[A/G]TGACGCAGAAGATGA | 4867 |
rs757825025 | snp | G/T | 1.64743e-05 | 0.00287 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123852 | TCTGAAAGGTCAAAA[G/T]GTTCATGAACTCCGT | 4867 |
rs757845897 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152445 | TGGACCACAAATAGA[A/C]GATAGAAGAGTAAAG | 4867 |
rs757849239 | snp | C/T | 1.651e-05 | 0.0028731 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165173 | AAAAAACCATTGAAA[C/T]GTGAAGTGCTTTTTA | 4867 |
rs757877522 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187750 | ATCCTTCATGAACAT[C/T]GATACAAAAATCCGC | 4867 |
rs757905613 | snp | C/T | 3.39443e-05 | 0.00411959 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204974 | TCGCCAGCATCTCCC[C/T]GGCTGCGGTGCTCTG | 4867 |
rs757920306 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165868 | ATCTCAAATACCCTG[A/T]CTTGATTATTACACA | 4867 |
rs757936889 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183205 | AATCTCTGCAGCACT[C/G]TGACATGTTCATGAT | 4867 |
rs757937092 | snp | A/T | 4.94287e-05 | 0.00497111 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150265 | TCAGAACCTGAAATG[A/T]GATTTTCCCTTTTGA | 4867 |
rs757939615 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138449 | AGCATGTGATACATA[A/C]GGTCAGAAACTGTCT | 4867 |
rs757945008 | snp | C/G | 1.64773e-05 | 0.00287026 | missense | NPHP1 | GRCh38.p7 | 2:110160181 | GAGAACCTGTATGCT[C/G]ATTCCTGGAAGAGGA | 4867 |
rs757955099 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204416 | TCTTAATGTTCTTGC[-/A]TATTAAGACTATTTC | 4867 |
rs757959759 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206210 | AGCGCTGCTAAGAAC[A/G]TCCTGGTGCAAGTCT | 4867 |
rs758038970 | snp | C/G/T | 8.41155e-05 | 0.00648471 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204877 | TCGCCCGCCCCAGGG[C/G/T]CCTCTGCACAGCCTG | 4867 |
rs758058738 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124882 | ATAAATTGTTTCCTA[A/G]TTTTTAGGGTTTTCA | 4867 |
rs758059337 | snp | A/C | 1.64827e-05 | 0.00287073 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178464 | CACAGCAAGGCCCTG[A/C]AGTTGTTGGGTAAGC | 4867 |
rs758091181 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129304 | ATGCAAACTTCACTC[A/T]ATGGATTTTATTGCA | 4867 |
rs758124841 | snp | A/G | | | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123576 | TACTGTTTAAATTTA[A/G]ATATAACAGTATTCC | 4867 |
rs758168774 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150907 | ACAGTGGCTCACGAC[-/T]GTAATCCCAGCACTT | 4867 |
rs758218144 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160395 | CAATAAAAGTTTCAA[C/T]ACTCTGTTCATTGAA | 4867 |
rs758233633 | snp | C/T | 1.66103e-05 | 0.00288182 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178565 | ATGAGAGAATATAGG[C/T]CTATTTCACTAAAAA | 4867 |
rs758237157 | snp | A/G | 2.79834e-05 | 0.00374044 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179700 | CTAAATTAAGAAAAA[A/G]AAGAAAATATATTGA | 4867 |
rs758258541 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154022 | ACACACAGGAAGTGA[C/T]AGGTTTCACTGTATC | 4867 |
rs758299103 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188642 | CATTGACATTCTTCA[C/T]AGAATTAGAAAAAGC | 4867 |
rs758468853 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174857 | TTGTTTAAAATGGCT[A/C]CCAAACATAGCGCTG | 4867 |
rs758508296 | in-del | -/C | 3.30792e-05 | 0.00406675 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164500 | ACAAAAAAAAAAAAA[-/C]AACTAATGAGAAATG | 4867 |
rs758515689 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145665 | TTTTTCCATATACTA[A/G]TACACTGAAAATGTG | 4867 |
rs758523545 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206889 | ACTTGCGATTCCTAG[A/G]TCAGCATCATCACCA | 4867 |
rs758549352 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199882 | ACATTTTCAGATATG[C/G]AAATGTCAAAGTGAG | 4867 |
rs758554085 | snp | C/G | 1.6615e-05 | 0.00288223 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146872 | TGAAACTTAAGGTCT[C/G]AACTAGTCAAATTTA | 4867 |
rs758592709 | snp | C/T | 1.64732e-05 | 0.0028699 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125607 | CAGGTACTGCAAATA[C/T]GGAGTTCAGTGTGGA | 4867 |
rs758598679 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203712 | ATCACATGAAAAAAA[A/T]TAAAGTGAAATTAAA | 4867 |
rs758650371 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124336 | CCATGGAGGGTGTCT[-/C]CACACATTCTGTCAA | 4867 |
rs758679134 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201163 | TCTGACCAGGTCACA[A/G]GATCTGGGCTACATA | 4867 |
rs758706650 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184598 | GCCCCACTCCATCAT[A/G]CGAATTGACATCGCA | 4867 |
rs758733261 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156471 | GTCTTTATCAGCAGC[A/G]TGAGAACAAACTAAT | 4867 |
rs758836608 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110137638 | AGATACCATCTCACA[C/T]CAGGTAGAACAGTCA | 4867 |
rs758867720 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142829 | CTACTGAACAGGTTT[C/T]GCTTTTGCACCATGG | 4867 |
rs758903558 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191083 | CTACAGCTCCCAGAG[-/T]TGAGTGACGCAGAAG | 4867 |
rs758990467 | snp | A/T | 1.69286e-05 | 0.0029093 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143682 | CACGAAACTTTAAGT[A/T]CTTGAGACAGTGAGT | 4867 |
rs759064089 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183062 | GAAGGGCATTACACA[A/T]TGGTAAAAGGTTCAA | 4867 |
rs759084292 | snp | A/C | 0.000157431 | 0.00887077 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164503 | AAAAAAAAAAAAAAA[A/C]TAATGAGAAATGTTA | 4867 |
rs759113820 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145016 | GTTTGAATGGCAGAG[A/G]AATGATAAGTAAAAA | 4867 |
rs759118346 | in-del | -/AG | 3.57277e-05 | 0.00422641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161568 | ATGACAAAATCTGGA[-/AG]AGTTACACTTTTACT | 4867 |
rs759174109 | snp | A/G | 1.65425e-05 | 0.00287593 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146725 | TTTACAGAAGTATTC[A/G]TTCGTTAGGAATATA | 4867 |
rs759193940 | snp | C/G | 1.67511e-05 | 0.00289401 | missense | NPHP1 | GRCh38.p7 | 2:110204950 | CCTGGAGAGGATCTC[C/G]CTGTCGTCTCGCCAG | 4867 |
rs759211123 | snp | A/G | 6.59239e-05 | 0.00574087 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123815 | ATTCTTTCTCATTTC[A/G]CCCAAGAAGTCATAG | 4867 |
rs759253223 | snp | C/T | 1.6806e-05 | 0.00289875 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168592 | ATTTTAAATAAAATT[C/T]AATAATCATGAGTAT | 4867 |
rs759261661 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153410 | AGGTAAATACTATGG[A/G]TCTTCTTTCAGGTTT | 4867 |
rs759297141 | snp | G/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123913 | GGTTTTCTTGGTTTT[G/T]CTTAAGGAAGTCAGT | 4867 |
rs759367877 | in-del | -/AA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193797 | AAGAACAGAAATTAT[-/AA]CAAACTGTCTCTCAG | 4867 |
rs759401581 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139008 | AAGGTTAGCTGAATT[A/G]AGTAAGTAAAAATAT | 4867 |
rs759417099 | snp | A/G | 1.79162e-05 | 0.00299295 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161561 | TGCAACTATGACAAA[A/G]TCTGGAAGAGTTACA | 4867 |
rs759437702 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166517 | GGCAGCAGCTTATGC[A/C]TTTTGAATTCTTTCC | 4867 |
rs759452190 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133749 | TGGAAAACACATAAA[C/T]ATGTGGAAATTAAAC | 4867 |
rs759491069 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170522 | AAGCTTTCCATAAAA[A/G]TCAGTTATGATGATG | 4867 |
rs759523068 | snp | G/T | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124478 | TGTTATCTAAGATAA[G/T]TGTAGCAGGTGTTCT | 4867 |
rs759595071 | snp | C/T | 3.55372e-05 | 0.00421513 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131830 | TTCATTAGACAATCC[C/T]CTACAATCCAACTTA | 4867 |
rs759609656 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205938 | CACTTCTCTACCACA[C/T]ACCAAAGGTGAACAA | 4867 |
rs759614636 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187125 | GAACTAGAGAACCAA[A/G]AGCAAACAAACCCTA | 4867 |
rs759675354 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179777 | TCGTTGAGCAGGCAA[A/G]GCAATTAGCCACTGT | 4867 |
rs759684079 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178180 | TTCATTTAGCTTTTC[A/G]GATCTCTGTTTTGTT | 4867 |
rs759692051 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162616 | AATTCCAAATGGAGA[C/T]AATTCTTTGGAAAAG | 4867 |
rs759699517 | snp | C/T | 4.45048e-05 | 0.00471703 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110179672 | ATCTATTGCCTGCTT[C/T]AACTGGATACATCTA | 4867 |
rs759700474 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153733 | ACAACTGTAATCTCA[A/G]CACTTTGGGAGGCCA | 4867 |
rs759724748 | snp | C/T | 1.6577e-05 | 0.00287893 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146862 | GACAAGTATATGAAA[C/T]TTAAGGTCTGAACTA | 4867 |
rs759782694 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189236 | GTCTCACTGACTTCA[A/C]GAATGAAGCCGTGGA | 4867 |
rs759788371 | snp | A/C/G | 4.9429e-05 | 0.00497116 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164635 | ATCCTATTTCGCATC[A/C/G]GAACTATTAGGTAGC | 4867 |
rs759798420 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185844 | AGGAGTAGTACTCCC[C/T]CTGAATGGCTGCAGA | 4867 |
rs759893286 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132135 | TAACAAAGGCATGTG[A/G]CTGCCATGCCTGATT | 4867 |
rs759936705 | snp | C/T | 1.65173e-05 | 0.00287374 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110147954 | GTTCAAATAATATTC[C/T]AAGATCTGGAGATGC | 4867 |
rs759966361 | snp | A/G | | | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123068 | AGGTGCTCAATTAAC[A/G]CAGGCTGCTACTGTT | 4867 |
rs760049048 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206567 | TGAGATGAGCAAAAC[A/G]AAAAAAATTGCTCTA | 4867 |
rs760107278 | snp | A/G | 1.70764e-05 | 0.00292197 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163033 | AGAGTGCAGTGGCTG[A/G]TAGGCACGCATTACC | 4867 |
rs760121969 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143661 | TAAGAAAAATCAAAA[C/G]TAACTCACGAAACTT | 4867 |
rs760133670 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162993 | GACAGAAAAATTAGA[C/T]GTGGATCTTGACTGC | 4867 |
rs760159442 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185033 | CTGAGTGAAGTGAAG[A/G]TCAGGATATTTGCAC | 4867 |
rs760161492 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142443 | ACCTCTTGGGCTCAA[A/G]CAATCCTCAAGCAAT | 4867 |
rs760233289 | snp | A/T | 3.34202e-05 | 0.00408766 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178383 | GCTATTGGTGATATA[A/T]CTTTAAAAAAGAAAA | 4867 |
rs760321200 | snp | C/T | 1.66101e-05 | 0.0028818 | missense | NPHP1 | GRCh38.p7 | 2:110163120 | TCGTAGTTAACACAT[C/T]AACAGTGTTTATCTG | 4867 |
rs760370767 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172449 | TGGATGTTTTAGTAA[C/T]TGATTTTCAACTTTT | 4867 |
rs760381997 | snp | A/G | 1.68383e-05 | 0.00290153 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204875 | TGTCGCCCGCCCCAG[A/G]GCCCTCTGCACAGCC | 4867 |
rs760440272 | snp | A/T | 1.65433e-05 | 0.002876 | missense | NPHP1 | GRCh38.p7 | 2:110144523 | AAGGGTCCACTTCAA[A/T]ACCTTTTTCATAAGG | 4867 |
rs760459827 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165917 | CACTCACACAAATAC[A/G]TAAAATATTATGTAT | 4867 |
rs760469889 | snp | G/T | 4.94645e-05 | 0.00497291 | missense | NPHP1 | GRCh38.p7 | 2:110165135 | ACTTGACTCTTGGCC[G/T]TCTTCTTCTTCACTA | 4867 |
rs760473645 | snp | A/T | 1.67231e-05 | 0.00289159 | missense | NPHP1 | GRCh38.p7 | 2:110204945 | CAGGGCCTGGAGAGG[A/T]TCTCGCTGTCGTCTC | 4867 |
rs760509111 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128675 | ATCTGCCTTGCATGC[A/G]TGCAGCTCTTCTACT | 4867 |
rs760513651 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204263 | CTTCCTCAAGACAGA[A/G]TGTTGTGATTTTTAA | 4867 |
rs760536058 | snp | C/G | 3.29457e-05 | 0.00405854 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123785 | GAGGGCTAGAGGCTG[C/G]CACTGTCACACTGCA | 4867 |
rs760549807 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152076 | CTTAGAATCACACTG[C/G]TTTCTGTGCAAAACC | 4867 |
rs760559800 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181880 | CCCACTGCAAAGAAG[A/C]TAAGAATCATGATAA | 4867 |
rs760561601 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197498 | CACTGCAGGCAGGGT[A/G]AGCAGGGGGCCCACG | 4867 |
rs760563721 | snp | A/T | 4.94858e-05 | 0.00497398 | missense | NPHP1 | GRCh38.p7 | 2:110168459 | AGACTAACCTCTAGG[A/T]AGGTTCTGGGAACAA | 4867 |
rs760565486 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127889 | CCTTATATTAATACA[C/T]AGTAGGCTCTTGTGA | 4867 |
rs760613012 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182879 | GTCAAGATCCATCGG[C/T]ATGCTGTCTTCAAGA | 4867 |
rs760619900 | snp | C/G | 1.64732e-05 | 0.0028699 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123895 | GAGCTTGGAGGGCGC[C/G]CTGGTTTTCTTGGTT | 4867 |
rs760623809 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198357 | AATTATCTAATATTA[C/T]TGTGTTATATTGTGT | 4867 |
rs760653061 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175945 | TTAAGCTGTCTTTGG[A/G]TTCACTGATCCCTTC | 4867 |
rs760687120 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163876 | GTGTTGACTAGGCTG[A/G]TCTTGAACTCTTGAC | 4867 |
rs760709878 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144854 | ATTCAAGTCATTAAC[A/G]TGTTCAGACCTTAAT | 4867 |
rs760739333 | snp | C/T | 1.77577e-05 | 0.00297969 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160296 | AGTTTATTTTTATGA[C/T]TTCTAACACAAATCT | 4867 |
rs760750093 | snp | A/C | 1.67846e-05 | 0.0028969 | missense | NPHP1 | GRCh38.p7 | 2:110131696 | GTACTTTGCAAGCTC[A/C]TCCTGTCTTTCAGGA | 4867 |
rs760772706 | snp | C/G | 1.64953e-05 | 0.00287182 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178529 | GATTATAGTTTGCAA[C/G]AGGTGCAGATTCATC | 4867 |
rs760790245 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189107 | ATATTTCATGACAAC[A/C]AAAAGCCAAAAGCAA | 4867 |
rs760828660 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138779 | TTGCCAGGGAAAGGG[A/G]TGGGAACTTCCTTCC | 4867 |
rs760846844 | snp | A/G | | | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122845 | TAAAAGGTTCGCCCC[A/G]ATAAGGCAGAACATC | 4867 |
rs760854679 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153087 | CATTTAGGTTAGCCA[A/T]CAGGAAAAAAACAAT | 4867 |
rs760875177 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188239 | TTATCCCTGTTTGCA[A/G]ATGACATGATCCTAT | 4867 |
rs760925942 | in-del | -/A | 0.0817415 | 0.184903 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164488 | CTATTCTTTTTGTAC[-/A]AAAAAAAAAAAAAAC | 4867 |
rs760962092 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162256 | GGAAAATTTTCTTAG[A/G]AAATAAGTAGACAAG | 4867 |
rs760968929 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130059 | AACACTGTGCCATCA[C/T]GTGGCTGAAGGCAAA | 4867 |
rs761011929 | snp | C/T | 2.16251e-05 | 0.00328818 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110179658 | GCATTTTTATTTTCA[C/T]CTATTGCCTGCTTTA | 4867 |
rs761023258 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134782 | CCTAAAATTTGACAC[A/C]CTTTCATGATAAAAA | 4867 |
rs761050157 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148109 | GAATAAATGTCCCCA[C/G]CAAATTTCATGTTGA | 4867 |
rs761121528 | snp | A/G | 1.6546e-05 | 0.00287624 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146852 | TAGGAAATAAGACAA[A/G]TATATGAAACTTAAG | 4867 |
rs761135939 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159711 | TGCATCTTTCAGTTT[G/T]ATTAATGTTTTCAAA | 4867 |
rs761200814 | in-del | -/AA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144843 | GAGAAAAATTAATTC[-/AA]GTCATTAACGTGTTC | 4867 |
rs761209487 | snp | A/T | 1.65362e-05 | 0.00287538 | missense, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147923 | GGACATACATTGCGA[A/T]TATAAGAAATTCCAA | 4867 |
rs761219501 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124326 | TCTCCTAAGCTCCAT[A/G]GAGGGTGTCTCACAC | 4867 |
rs761297681 | snp | C/T | 3.24196e-05 | 0.00402601 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125355 | AAAATAAAAGAAATT[C/T]GATACACAACTGAGA | 4867 |
rs761308356 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199249 | AGCAGCCTGGCCAAC[A/G]TGGTGAAACTCCGTC | 4867 |
rs761310402 | in-del | -/A | 0.0170927 | 0.0908527 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168406 | GTTTTATTAAAAGCG[-/A]AAAAAAAAAAAGTCT | 4867 |
rs761395730 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173523 | ATGATGGCCCCATAC[A/G]TATAATACCATATTT | 4867 |
rs761416341 | snp | A/G | 1.65048e-05 | 0.00287265 | missense | NPHP1 | GRCh38.p7 | 2:110169886 | TTGACCATTTGTGAG[A/G]TTCATTTTCCTCTTT | 4867 |
rs761509583 | snp | A/C | 3.64558e-05 | 0.00426926 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161708 | ATTCCCTGAAAAAAT[A/C]ATTTTTTCTTCATTT | 4867 |
rs761551995 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197201 | TAATACCTAGGTGAT[C/G]GGATGATCTGTCCAG | 4867 |
rs761555615 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135334 | TACAAAAAATTAGCT[A/G]GGCGTGTTGGCAGGC | 4867 |
rs761563662 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131899 | AATTTTGCTTCATTA[A/C]TGGAACACATTTTTA | 4867 |
rs761566772 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185496 | TCCGTTTACTACCAC[A/G]GGGAGACAGAGGGAG | 4867 |
rs761569681 | snp | A/G | 1.66175e-05 | 0.00288244 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143518 | GATCCCAAATTCACT[A/G]GACAGGTAAAAGCAG | 4867 |
rs761588666 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190352 | GGCTCAGGCATGGCG[A/G]GCTGAAGGTCCCGAG | 4867 |
rs761612263 | snp | A/G | 1.88265e-05 | 0.00306805 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201513 | TGGAGACCATTTAAA[A/G]TATCACATTATTAAA | 4867 |
rs761682436 | in-del | -/TCAGTGATAACTTTCCACCGT | 1.64732e-05 | 0.0028699 | cds-indel, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123924 | TTTTGCTTAAGGAAG[-/TCAGTGATAACTTTCCACCGT]GCAGTCTCAGTCTCT | 4867 |
rs761702183 | snp | C/T | 1.69444e-05 | 0.00291066 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204858 | GCGCAGCTGCGTCCG[C/T]CTGTCGCCCGCCCCA | 4867 |
rs761705115 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142190 | CAAATGCCCTTCAAT[C/T]TGTGAATGAATAAAC | 4867 |
rs761740905 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191394 | GCTCAGAGGGTCCTA[C/T]GCCCAGAGAGCCTCG | 4867 |
rs761751890 | snp | C/T | 1.65509e-05 | 0.00287666 | missense | NPHP1 | GRCh38.p7 | 2:110144505 | TACCTCTTCTGGATA[C/T]TGAAGGGTCCACTTC | 4867 |
rs761797397 | snp | A/G | 1.66026e-05 | 0.00288115 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168424 | AAAAAAAAAGTCTTA[A/G]AAAAGGAAGGCATAA | 4867 |
rs761864060 | snp | A/G | 1.64762e-05 | 0.00287016 | missense | NPHP1 | GRCh38.p7 | 2:110165125 | TGCCCTCTTCACTTG[A/G]CTCTTGGCCTTCTTC | 4867 |
rs761905603 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182616 | TTTGTCACCACCAGG[C/G]CTGCCCTGCAAGAGC | 4867 |
rs761929684 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205298 | TACCAATTTTGTAAG[C/T]TAATGTTAAGATACA | 4867 |
rs761949908 | snp | A/G | 3.29473e-05 | 0.00405864 | missense | NPHP1 | GRCh38.p7 | 2:110150187 | GATTACTTACCTGGG[A/G]AGAAAAGGTCCATGT | 4867 |
rs761995665 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165841 | AAATGATAAGCACTC[A/G]AGGTGATGGAAATCT | 4867 |
rs761999549 | snp | A/G | 1.64996e-05 | 0.0028722 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178416 | GAAAGGTAGAAAGGA[A/G]GCATACTCAGTTATA | 4867 |
rs762003748 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204222 | CCTTATACACGGGAG[C/T]AGTGAATGTGCCTGC | 4867 |
rs762004900 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124194 | GCAGGTATCGGCTCT[A/G]AGCCAGCTGCTCAGG | 4867 |
rs762021927 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159396 | AAATTCACAGGTGAA[A/G]CCACCTAGGCCTGAA | 4867 |
rs762031598 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126841 | ACGTGAGTATCACTT[A/G]GCAAATGTAGACTTA | 4867 |
rs762071663 | snp | G/T | 4.10038e-05 | 0.00452772 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129148 | GTATAACTGCTTCCA[G/T]AAGCCAGCAGGTTTC | 4867 |
rs762110040 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145186 | TTTCTTTTGAAGTCA[C/T]ATACTAAGTGTAGAA | 4867 |
rs762119782 | in-del | -/A | 2.78195e-05 | 0.00372947 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179694 | TACATCTAAATTAAG[-/A]AAAAAAAAGAAAATA | 4867 |
rs762172675 | in-del | -/AAA | 0.000132398 | 0.00813519 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168406 | GTTTTATTAAAAGCG[-/AAA]AAAAAAAAAGTCTTA | 4867 |
rs762178037 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149695 | AATGTAAAATAAAAT[A/G]TGGACAATTGATACT | 4867 |
rs762244069 | snp | C/T | 3.29766e-05 | 0.00406045 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178510 | TGCTCCTCTTCTTTT[C/T]TCTGATTATAGTTTG | 4867 |
rs762253374 | in-del | -/CACT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155491 | TGGAAAAGCTGCAGA[-/CACT]CAGTGCCAGCCCATG | 4867 |
rs762258864 | snp | A/G | 1.65195e-05 | 0.00287393 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164508 | AAAAAAAAAACTAAT[A/G]AGAAATGTTACTTGG | 4867 |
rs762265048 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188144 | TGCTCCTATTCAATG[C/G]AGTGTTGGAAGTTCT | 4867 |
rs762284781 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152508 | AGTCCAGAAGGAGCA[G/T]GGGGTAGCAAGGGGC | 4867 |
rs762317969 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175458 | TTTCACTTTAATTTT[G/T]TATACTTTTGCTGGA | 4867 |
rs762322858 | in-del | -/TTTG | 1.64836e-05 | 0.0028708 | frameshift-variant, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124055 | GGACTTCAGGAACTC[-/TTTG]TCTCTCTGGGAAAAC | 4867 |
rs762350912 | snp | C/T | 3.295e-05 | 0.00405881 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110164610 | TCCATTGGTGTCTTC[C/T]ACAGTCTCCATCCTA | 4867 |
rs762404438 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170742 | GGACACCTAACCCAG[A/G]TTGCACGAATGGGAA | 4867 |
rs762406301 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173090 | CCGACTCCCGAGTAG[C/T]TGGGACTACAGGCAT | 4867 |
rs762418657 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155583 | CCATGTGAACCCACC[C/T]CTTACATCAGCGTGA | 4867 |
rs762449676 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138699 | CCTTTGGTCCACGGT[C/G]CCATTGCACAGTGTT | 4867 |
rs762468830 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168798 | ACCTAACATACACTT[A/G]AGCCATTTATGCAAA | 4867 |
rs762532937 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204634 | CGTTAGGTGGGAGTG[A/T]GGGTCGGAGGAGGGG | 4867 |
rs762546138 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129961 | TTATTTCTCCAAGTT[C/T]TGGAGGCTGGGAAAT | 4867 |
rs762569117 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146987 | AACACAGTAGAATCT[-/C]ATTTTGCCTGCGGGT | 4867 |
rs762601521 | snp | A/T | 1.64874e-05 | 0.00287113 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124059 | TTCAGGAACTCTTTG[A/T]CTCTCTGGGAAAACA | 4867 |
rs762628126 | snp | A/G | 3.37633e-05 | 0.00410859 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168602 | AAATTCAATAATCAT[A/G]AGTATATGTCAATAC | 4867 |
rs762645604 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199164 | GATGATGGCCAGGCA[C/T]GGTGGCTCACGTAAT | 4867 |
rs762713885 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146333 | GATCTTAAAGTTTAA[A/T]TCATTTACCGTGGTT | 4867 |
rs762718306 | snp | A/C | 1.76896e-05 | 0.00297397 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161577 | TCTGGAAGAGTTACA[A/C]TTTTACTGATAGTAA | 4867 |
rs762733736 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140415 | TGGAGCACAAGGACA[A/C]AGGACCTTTAAGAAC | 4867 |
rs762735743 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128925 | ACAATCAGTGGCCAT[C/T]CTAAGTCAAGGAAAA | 4867 |
rs762743361 | snp | A/T | 1.66715e-05 | 0.00288712 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143505 | CCAAGTGCTGAATGA[A/T]CCCAAATTCACTGGA | 4867 |
rs762743687 | snp | C/T | 3.29788e-05 | 0.00406058 | missense | NPHP1 | GRCh38.p7 | 2:110169871 | TGTATTCTTCACCGG[C/T]TGACCATTTGTGAGA | 4867 |
rs762801326 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189513 | GTGTTACAGCTCATA[A/C]AGGCAGTGTGGACCC | 4867 |
rs762864232 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189287 | GTTCTTAAAGGCGGC[A/G]TGTCCAGAGTTTGTT | 4867 |
rs762909263 | snp | C/G | | | missense | NPHP1 | GRCh38.p7 | 2:110161629 | TAGCATCCCACATCA[C/G]ATCTCTGAAGGCCAG | 4867 |
rs762946279 | snp | G/T | 1.69735e-05 | 0.00291315 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204850 | CGCAGTGCGCGCAGC[G/T]GCGTCCGCCTGTCGC | 4867 |
rs763000358 | in-del | -/C | 8.25839e-05 | 0.00642535 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168441 | AAAGGAAGGCATAAA[-/C]CAAGACTAACCTCTA | 4867 |
rs763004817 | snp | C/T | 0.0004033 | 0.0141946 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110201462 | GGGTTCTAGAGCTTC[C/T]TTCAGTTGGCTCTCA | 4867 |
rs763046626 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126103 | CAATGGTCAGAATGA[A/G]ACAGACTGAAGTACA | 4867 |
rs763062619 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163801 | CAGGAGCTGGGACTA[C/T]AGACATGCGCTACCA | 4867 |
rs763075207 | in-del | -/GA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203623 | AAATGGATAAAATAT[-/GA]GAGCATCAGTGAATC | 4867 |
rs763102876 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156669 | AATTACCCTCTCTGG[A/G]TGGGGTGGTCCAAGA | 4867 |
rs763120682 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149541 | AGCCCTCTCACTGAA[A/C]CTCCATCTTGCCTTA | 4867 |
rs763127968 | snp | A/G/T | 1.65732e-05 | 0.00287859 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164766 | AGTGAGTCAGGTCAG[A/G/T]TTATGCCTATTCACT | 4867 |
rs763192801 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160267 | TAATCTGAAAGAAAA[A/G]TTAGTTATAAAAAAG | 4867 |
rs763221050 | snp | A/C | 1.65261e-05 | 0.0028745 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110148003 | GCAATCACCATCAAG[A/C]AAACATGGTAAGATG | 4867 |
rs763232489 | in-del | -/G | 1.7058e-05 | 0.0029204 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204981 | CATCTCCCTGGCTGC[-/G]GTGCTCTGATTGCTC | 4867 |
rs763260740 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157862 | ATTGACCGTTATCAG[C/T]TCAAGCAGCACTGTC | 4867 |
rs763265138 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144748 | TGGGCAAATAAACAG[C/T]CTTTCTTTCCTAATT | 4867 |
rs763304838 | snp | A/T | 1.75234e-05 | 0.00295997 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110129252 | CAGCATGGGATGGCT[A/T]ATTAAATCTGAAATG | 4867 |
rs763309390 | snp | C/T | 3.29489e-05 | 0.00405874 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150178 | CATTCAGCAGATTAC[C/T]TACCTGGGGAGAAAA | 4867 |
rs763320261 | snp | A/G | 1.6492e-05 | 0.00287154 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170040 | TACTTGAAATAATAT[A/G]CAAGAACAGACCAGC | 4867 |
rs763327552 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162886 | TGATAGGATCAGGGA[A/T]CTTTCCTCACTGTCA | 4867 |
rs763367405 | snp | C/G | 1.64825e-05 | 0.00287071 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125716 | ATTATGTTAGTCCAA[C/G]TAGTAACAAGTCCTT | 4867 |
rs763374878 | in-del | -/TCTT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154310 | TAAGTCCAGTAAACC[-/TCTT]TCTTTTGTAAATTGC | 4867 |
rs763386312 | in-del | -/TTTC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172947 | CATGTAGTAATTTCT[-/TTTC]TTTTTCTTTTTCTTT | 4867 |
rs763390413 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181565 | GTGTCCTGACTGTTA[A/G]AAGAAAAACAAACAG | 4867 |
rs763399952 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204123 | TTACACATAGCAGAT[C/T]CCTGGAAATGTAATT | 4867 |
rs763409604 | snp | A/G | 3.30529e-05 | 0.00406514 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178406 | AAAGAAAAAAGAAAG[A/G]TAGAAAGGAAGCATA | 4867 |
rs763412629 | snp | A/C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183465 | TCTATAGAAACAATA[A/C/G]TTATCACTGGCTTGC | 4867 |
rs763417260 | snp | A/G | 1.67691e-05 | 0.00289556 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163139 | AGTGTTTATCTGCTG[A/G]AGACAGTAACATCAA | 4867 |
rs763454664 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186873 | GAAAGAAAGAAATCC[A/G]GTCAAAATCACACAA | 4867 |
rs763506942 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130471 | GAATTCAAAGGCAAT[C/G]GTGATTAAAAGGCTT | 4867 |
rs763525707 | snp | C/T | 3.29777e-05 | 0.00406051 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124062 | AGGAACTCTTTGTCT[C/T]TCTGGGAAAACACCA | 4867 |
rs763556131 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153724 | CGGTAGCTCACAACT[C/G]TAATCTCAGCACTTT | 4867 |
rs763557513 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133157 | AATTATATGTTATCT[A/C]TAAGAGACTCACGGT | 4867 |
rs763637148 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146647 | ATAAAAAGTCCTCTC[C/G]CCAAAAGTTATTGGC | 4867 |
rs763644910 | snp | C/T | 1.74692e-05 | 0.00295539 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161584 | GAGTTACACTTTTAC[C/T]GATAGTAACTATACT | 4867 |
rs763657158 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130006 | ATGGCATTTGGTGTC[G/T]GGTAAGGGCCTTCTT | 4867 |
rs763702400 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171037 | AGAAAGGAGACAAAG[A/G]TATAATGTGGGGAAC | 4867 |
rs763730316 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181034 | AAGCAGCATTGTTCC[-/G]TGGGCCCCACTTCCA | 4867 |
rs763738774 | snp | C/T | 1.65562e-05 | 0.00287712 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169766 | TCTGTTAGGTATGGA[C/T]ATCGACCCTTAGGTT | 4867 |
rs763834268 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142078 | CTCCTAGGTATTTAT[A/G]CCCATGAGAGATGAA | 4867 |
rs763887632 | snp | C/T | 1.74918e-05 | 0.0029573 | splice-acceptor-variant | NPHP1 | GRCh38.p7 | 2:110161698 | CTCGAAATTGATTCC[C/T]TGAAAAAATCATTTT | 4867 |
rs763929819 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198027 | ACTGGCTCCTGAAAC[A/C]CCACAAAAAATGATT | 4867 |
rs763935677 | snp | C/T | 1.81233e-05 | 0.00301021 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110201474 | TTCTTTCAGTTGGCT[C/T]TCAGAAAGCAAACTA | 4867 |
rs763975526 | snp | A/C | 3.335e-05 | 0.00408337 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143506 | CAAGTGCTGAATGAT[A/C]CCAAATTCACTGGAC | 4867 |
rs763998045 | snp | C/T | 3.62286e-05 | 0.00425594 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179716 | AAGAAAATATATTGA[C/T]TTTTCTATTATCAGA | 4867 |
rs764000961 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180522 | AAAAGGGAATAACAA[C/T]GTTGATCCAAGATGG | 4867 |
rs764007679 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139377 | AACCCTTTTGAAAAA[C/T]AGCTCCAAAAGACAA | 4867 |
rs764023703 | snp | A/G | 0.000215766 | 0.0103844 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164775 | GGTCAGGTTATGCCT[A/G]TTCACTCAATTAGGG | 4867 |
rs764024304 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140492 | TGCTAACTTCTGCAC[A/C]ACACAGTCCAATTTG | 4867 |
rs764055113 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187684 | ATCCAGCATCCTCCC[A/G]ATACCAAAACCTGGG | 4867 |
rs764086072 | snp | A/C | 1.64781e-05 | 0.00287033 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164650 | AGAACTATTAGGTAG[A/C]AAAACGAGACATGAT | 4867 |
rs764112876 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177889 | CTGGGACTACAGGTA[C/T]GTGCCACCAAGCCTG | 4867 |
rs764171899 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186203 | CTCTTTCTCTTGCTC[A/G]CTGCCATAGAATCAA | 4867 |
rs764173417 | in-del | -/ATGGATTTT | 1.93523e-05 | 0.00311059 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129305 | TGCAAACTTCACTCA[-/ATGGATTTT]ATTGCAATAGACACA | 4867 |
rs764195285 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132390 | CTGGGCATGGTGGCT[C/T]ACACCTGTAATCCTA | 4867 |
rs764278109 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126117 | AGACAGACTGAAGTA[C/T]AATTTTGTGAGTAAA | 4867 |
rs764280361 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201205 | TAGGGTAATCCTGCC[C/T]ATGTCACCTATGTTT | 4867 |
rs764303266 | snp | C/T | 1.65359e-05 | 0.00287536 | synonymous-codon, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110148012 | ATCAAGCAAACATGG[C/T]AAGATGCGAGTAACC | 4867 |
rs764353382 | in-del | -/A/AA | 0.0239973 | 0.106895 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168405 | GTTTTATTAAAAGCG[-/A/AA]AAAAAAAAAAAAGTC | 4867 |
rs764379847 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149088 | GATTAAATAAGGTAA[C/T]GTACGTAAGAGCCTG | 4867 |
rs764390829 | snp | A/C | 1.71619e-05 | 0.00292928 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178337 | TTTGTTTATATCTAT[A/C]CTGCTATATGTCTTT | 4867 |
rs764393095 | snp | C/T | 4.94189e-05 | 0.00497062 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125617 | AAATATGGAGTTCAG[C/T]GTGGAGACTCATATT | 4867 |
rs764393306 | snp | A/G | 1.64743e-05 | 0.00287 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110150185 | CAGATTACTTACCTG[A/G]GGAGAAAAGGTCCAT | 4867 |
rs764393930 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148512 | CTATTTGTTAGTAAA[C/T]AGTTTATGCCTTTGC | 4867 |
rs764427721 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163833 | GCCCAGCTAATTTTT[C/G]TATTTTTAGTCGAGG | 4867 |
rs764481084 | snp | C/T | 3.29685e-05 | 0.00405995 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125727 | CCAAGTAGTAACAAG[C/T]CCTTGCAACACTTAT | 4867 |
rs764482387 | snp | A/G/T | 6.60092e-05 | 0.00574464 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178413 | AAAGAAAGGTAGAAA[A/G/T]GAAGCATACTCAGTT | 4867 |
rs764533138 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156620 | GCTCTGCAGTGCCTT[C/T]AGGTAGTTGCTTTTT | 4867 |
rs764677899 | snp | C/T | 1.65403e-05 | 0.00287574 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146726 | TTACAGAAGTATTCA[C/T]TCGTTAGGAATATAT | 4867 |
rs764679272 | in-del | -/AC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139520 | TGGTGCCAGTGGTCT[-/AC]ACCGAATAATTCACA | 4867 |
rs764682263 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184844 | GGTCCTTCCCAATTC[C/T]GGGCCCCTGAGCTGC | 4867 |
rs764707539 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181568 | TCCTGACTGTTAAAA[A/G]AAAAACAAACAGAAA | 4867 |
rs764740388 | snp | A/C | 1.65545e-05 | 0.00287697 | stop-gained | NPHP1 | GRCh38.p7 | 2:110144532 | CTTCAATACCTTTTT[A/C]ATAAGGAGTACCACC | 4867 |
rs764762433 | snp | C/G | 5.03081e-05 | 0.00501513 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204884 | CCCCAGGGCCCTCTG[C/G]ACAGCCTGACCATAC | 4867 |
rs764769662 | snp | C/T | 1.6473e-05 | 0.00286988 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123928 | GCTTAAGGAAGTCAG[C/T]GATAACTTTCCACCG | 4867 |
rs764776516 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166518 | GCAGCAGCTTATGCC[G/T]TTTGAATTCTTTCCC | 4867 |
rs764792393 | snp | A/G | 1.64874e-05 | 0.00287113 | missense | NPHP1 | GRCh38.p7 | 2:110168475 | AGGTTCTGGGAACAA[A/G]ACCTTCATTTCCTTT | 4867 |
rs764837507 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183064 | AGGGCATTACACAAT[C/G]GTAAAAGGTTCAATT | 4867 |
rs764839491 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198779 | TCTTATTCAGGGGAT[A/G]GTACTAGCAGGAAGG | 4867 |
rs764840540 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201262 | TCACAACAGCAAGTC[C/T]GCAACCATCAGGTTT | 4867 |
rs764843331 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185605 | TGCCCTGAGGACCCA[-/G]GCAGCTGCTGCCTCC | 4867 |
rs764904746 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139109 | CAAGCAACTAACATT[A/G]TTACCTTATTTATTT | 4867 |
rs764950692 | snp | A/T | 3.29571e-05 | 0.00405924 | missense | NPHP1 | GRCh38.p7 | 2:110160165 | GGCGTACATGTCTGC[A/T]GAGAACCTGTATGCT | 4867 |
rs764972828 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143903 | TAGAACCAACTGCAT[C/T]CCAGACCCCAAACTC | 4867 |
rs765022372 | snp | A/T | 1.68272e-05 | 0.00290057 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168595 | TTAAATAAAATTCAA[A/T]AATCATGAGTATATG | 4867 |
rs765045649 | snp | C/T | 0.000133796 | 0.00817802 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129301 | TTTATGCAAACTTCA[C/T]TCAATGGATTTTATT | 4867 |
rs765084238 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188599 | CCCCAAATAATGTAT[A/C]GATTCAATGCTATTC | 4867 |
rs765156092 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168581 | CAAAGTAAACCATTT[C/T]AAATAAAATTCAATA | 4867 |
rs765156335 | snp | C/G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152353 | TCAACACAACCATTC[C/G/T]GCTCCACATATGAAG | 4867 |
rs765216878 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130084 | GGCAAAAGGGTGAGA[C/T]GAATTCCCTTGTCAA | 4867 |
rs765229644 | snp | C/T | 7.58294e-05 | 0.00615702 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131834 | TTAGACAATCCCCTA[C/T]AATCCAACTTATAAT | 4867 |
rs765230111 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156205 | GCCTCAGCCTCCTGA[A/G]TAGCTGGGATTACAG | 4867 |
rs765263671 | snp | A/G | 1.6825e-05 | 0.00290038 | stop-gained | NPHP1 | GRCh38.p7 | 2:110161686 | AGAAGTAATTTGCTC[A/G]AAATTGATTCCCTGA | 4867 |
rs765267939 | snp | A/G | 1.65509e-05 | 0.00287666 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178556 | CATCAGCCTATGAGA[A/G]AATATAGGTCTATTT | 4867 |
rs765268823 | in-del | -/TCT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162951 | ATGTGAGATTCAACA[-/TCT]TCTTCAACAATGTGT | 4867 |
rs765357906 | snp | C/G | 2.29566e-05 | 0.00338788 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110179678 | TGCCTGCTTTAACTG[C/G]ATACATCTAAATTAA | 4867 |
rs765450176 | snp | A/G | 1.6517e-05 | 0.00287372 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110147956 | TCAAATAATATTCCA[A/G]GATCTGGAGATGCAG | 4867 |
rs765479917 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140278 | AGGTGGAAGCTGAGC[A/G]GAAGTCCTGAGGAGT | 4867 |
rs765480167 | snp | A/C/G | 3.31781e-05 | 0.00407286 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146867 | GTATATGAAACTTAA[A/C/G]GTCTGAACTAGTCAA | 4867 |
rs765538062 | snp | C/T | 1.64738e-05 | 0.00286995 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125591 | ATAGGCAAGCAAACA[C/T]CAGGTACTGCAAATA | 4867 |
rs765545526 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153777 | ACCTGAGGTCAGTAG[C/T]TCAAGACTAGCCTGG | 4867 |
rs765552580 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178184 | TTTAGCTTTTCAGAT[C/T]TCTGTTTTGTTTCAA | 4867 |
rs765565777 | snp | C/T | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124539 | CAGCAATGCCTGGGA[C/T]GGAGGTCGAGGGGTC | 4867 |
rs765568136 | snp | C/T | 1.66272e-05 | 0.00288328 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124103 | TAACATTGTTATTTT[C/T]AAAGTGTTAAATTCT | 4867 |
rs765568261 | snp | A/C | 8.26836e-05 | 0.00642923 | missense | NPHP1 | GRCh38.p7 | 2:110169902 | TTCATTTTCCTCTTT[A/C]TCTTCCTCTTCCTCC | 4867 |
rs765605750 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179858 | CAGATGATCCTCATA[C/G]CCAAGCTGTAAAACA | 4867 |
rs765625743 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177254 | AAGGTTAGTCCAATA[C/T]CAACTACTCTGCCAT | 4867 |
rs765682724 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172514 | GGCCAGGTGTGGCGG[C/T]TCACACCTGTAATCC | 4867 |
rs765691769 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171132 | TAAGAAAACAGCATA[C/G]GGATGAAGAGAAAGG | 4867 |
rs765704002 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173983 | AAATGTCCTTTCTTA[A/G]ATAGTAAATTACTTT | 4867 |
rs765720818 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202350 | TGGCATCCATCTGAG[C/T]GTTATTTACAAAATT | 4867 |
rs765741069 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132312 | TCCTCATTTATTGGA[C/T]ACCAATAGTAATACT | 4867 |
rs765763050 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126536 | ATACCTATTACCACG[C/T]GAGGGGACTATGGTC | 4867 |
rs765766635 | snp | C/T | 1.64953e-05 | 0.00287182 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170029 | CTGAGTAGGACTACT[C/T]GAAATAATATACAAG | 4867 |
rs765856771 | snp | C/G/T | 5.0643e-05 | 0.00503184 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163040 | AGTGGCTGATAGGCA[C/G/T]GCATTACCTTCCTCC | 4867 |
rs765945454 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143736 | AAATATACCACCCAG[C/T]AGTGCTGAATTGAAT | 4867 |
rs765949031 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161056 | CTGTGGCCCCAGCTA[C/T]TCAGGAAGCTGAAGT | 4867 |
rs765968778 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144209 | ACCCAGCAATAGGCA[-/G]TCTCTGTATTAGTCA | 4867 |
rs766016349 | snp | C/T | 1.68462e-05 | 0.00290221 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143675 | AGTAACTCACGAAAC[C/T]TTAAGTACTTGAGAC | 4867 |
rs766038702 | in-del | -/TG | 1.64833e-05 | 0.00287078 | frameshift-variant, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124057 | ACTTCAGGAACTCTT[-/TG]TCTCTCTGGGAAAAC | 4867 |
rs766096208 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187347 | GATATCACCACTGAC[C/T]CCACAGAAATACAAA | 4867 |
rs766111597 | snp | C/T | 3.29739e-05 | 0.00406028 | missense | NPHP1 | GRCh38.p7 | 2:110165136 | CTTGACTCTTGGCCT[C/T]CTTCTTCTTCACTAT | 4867 |
rs766122626 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156418 | GGAACTGTAAGTCCA[A/C]TAAACCTTTCTTTTG | 4867 |
rs766126915 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152141 | AATTTACAGAGATTT[C/T]GTTCAGCAAACTGCA | 4867 |
rs766145969 | snp | C/T | 3.34689e-05 | 0.00409064 | missense | NPHP1 | GRCh38.p7 | 2:110204947 | GGGCCTGGAGAGGAT[C/T]TCGCTGTCGTCTCGC | 4867 |
rs766198007 | snp | C/G | 1.64893e-05 | 0.0028713 | missense | NPHP1 | GRCh38.p7 | 2:110168469 | CTAGGTAGGTTCTGG[C/G]AACAAGACCTTCATT | 4867 |
rs766200312 | snp | G/T | 1.64738e-05 | 0.00286995 | missense | NPHP1 | GRCh38.p7 | 2:110150220 | TGGGCTTTTTAGGTT[G/T]CCATGTGGCTCTGAC | 4867 |
rs766289967 | snp | C/T | 6.59152e-05 | 0.00574049 | missense | NPHP1 | GRCh38.p7 | 2:110160152 | TCAAATAGACAGAGG[C/T]GTACATGTCTGCTGA | 4867 |
rs766300820 | snp | A/T | 1.83694e-05 | 0.00303057 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129285 | AAACAACAGAAAGAA[A/T]TTTATGCAAACTTCA | 4867 |
rs766322029 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127915 | TGTGAAATCTTTGTT[A/G]AAGAATCAGTGTATA | 4867 |
rs766324587 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166352 | CCACCTCCTTTTTCA[A/T]ACAAAATCCCTGATT | 4867 |
rs766356045 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186886 | CCAGTCAAAATCACA[C/G]AACTACAAGGAAAAT | 4867 |
rs766499997 | snp | C/T | 1.67688e-05 | 0.00289554 | missense | NPHP1 | GRCh38.p7 | 2:110131699 | CTTTGCAAGCTCATC[C/T]TGTCTTTCAGGAGCA | 4867 |
rs766520051 | in-del | -/CT | 1.71522e-05 | 0.00292845 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204985 | TCCCTGGCTGCGGTG[-/CT]CTGATTGCTCCAGTT | 4867 |
rs766524637 | in-del | -/T | 9.8947e-05 | 0.00703305 | frameshift-variant | NPHP1 | GRCh38.p7 | 2:110168521 | CCACCAACCATCAGG[-/T]TTTTTTTCAATTACA | 4867 |
rs766576001 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153649 | GCCAAAAAGATACAC[A/T]CATCAACACTACAGA | 4867 |
rs766608337 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153219 | TCTATCTAATTAAAA[C/T]ATCCTTTTGGAATGA | 4867 |
rs766609143 | snp | C/T | 1.6504e-05 | 0.00287258 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178539 | TGCAACAGGTGCAGA[C/T]TCATCAGCCTATGAG | 4867 |
rs766612596 | snp | A/G | 1.64895e-05 | 0.00287132 | stop-gained, intron-variant | NPHP1 | GRCh38.p7 | 2:110164522 | TGAGAAATGTTACTT[A/G]GAGCACAGGCTTAGA | 4867 |
rs766643841 | in-del | -/GA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158382 | TTGTCCTATATTACT[-/GA]GAGAGAAGTGTTAAA | 4867 |
rs766667603 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176166 | TTTGCTAATTCTCAC[A/C]TCTCCGAGCTACTGA | 4867 |
rs766700486 | snp | C/T | 1.64879e-05 | 0.00287118 | missense | NPHP1 | GRCh38.p7 | 2:110146769 | TTGCTGGAATAGGAA[C/T]TCCACTGGCATCAAA | 4867 |
rs766700651 | snp | A/T | 1.64914e-05 | 0.00287149 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110179661 | TTTTTATTTTCATCT[A/T]TTGCCTGCTTTAACT | 4867 |
rs766722792 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130113 | AAGCCCTTCTGTAAG[A/G]GTCTCTAATCCCATT | 4867 |
rs766729035 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200715 | TGCTTTTCTTTCATT[A/C]CTGTTAATTCAGCTT | 4867 |
rs766732140 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173615 | TTGTGTACAGTATTC[A/G]GCACAGTAACATGCT | 4867 |
rs766779722 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199349 | TAAGGCAGGAGAATC[A/G]CTTGAACCCAGGAGG | 4867 |
rs766861637 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193084 | CCATCGAGGCTAGGA[A/T]GAAACTGCATCAACT | 4867 |
rs766862953 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145323 | GGAGGCAGAATCTCG[C/T]TCTGTCACCCAGGCT | 4867 |
rs766865133 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161159 | TGACAGAGGGAGACC[C/G]TGTCTCAAAAATACT | 4867 |
rs766867577 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185014 | AGGTTTTGGTGACAG[A/G]CTACTGAGTGAAGTG | 4867 |
rs766936427 | snp | C/T | 1.64741e-05 | 0.00286998 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125581 | CATGATTAGAATAGG[C/T]AAGCAAACACCAGGT | 4867 |
rs766974777 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140631 | AGCTTATCAACAAGA[C/T]GAGGAGTGGGGAGGC | 4867 |
rs767026177 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190589 | CCCTCCACACCTCCT[C/T]GCAAGCTGAGGGAGC | 4867 |
rs767029053 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184285 | GCTATCTCACGGAGC[A/T]TGGCATTGTCAAGGA | 4867 |
rs767051956 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140014 | TACCTTGAACCCACA[G/T]CACAGCCCCACCCCG | 4867 |
rs767052460 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132042 | ATGTTAGCATATATA[C/T]CTATGTTAAATGTCA | 4867 |
rs767208828 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170941 | TGAAAAGAGGTACGC[A/G]GAATGTAGCCCAGGT | 4867 |
rs767220260 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202677 | ATTTAAAATTAACTC[A/C]TCATGACTAATCATC | 4867 |
rs767263855 | snp | A/G | 1.72113e-05 | 0.00293348 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163026 | TGCTGAAAGAGTGCA[A/G]TGGCTGATAGGCACG | 4867 |
rs767296931 | snp | C/G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172420 | TTTGTTGTCCTTTTT[C/G/T]TGGCCCCTAAAGTTG | 4867 |
rs767343103 | snp | A/G | 1.69398e-05 | 0.00291026 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204861 | CAGCTGCGTCCGCCT[A/G]TCGCCCGCCCCAGGG | 4867 |
rs767389326 | snp | A/G | 1.66443e-05 | 0.00288477 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165011 | ATAAACAAATAAAAT[A/G]TTTCCTAAACCTACT | 4867 |
rs767430483 | snp | A/G | 1.64735e-05 | 0.00286993 | missense | NPHP1 | GRCh38.p7 | 2:110150190 | TACTTACCTGGGGAG[A/G]AAAGGTCCATGTTTT | 4867 |
rs767481405 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180642 | TTCTCACATTGAGAC[C/T]GACAAGGCAAACACC | 4867 |
rs767514189 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188202 | AATAAGGAGTATTCA[A/T]ATAGGAAGAGAGGAA | 4867 |
rs767659244 | snp | G/T | 3.29783e-05 | 0.00406055 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160107 | CTAGTATGAATTGAT[G/T]TACTTCTCAGTAACC | 4867 |
rs767664610 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134475 | GAGGAAAAAACACTA[C/T]CAAACTCATTATGAG | 4867 |
rs767682276 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126902 | GTTACATGTCAATGT[C/T]CCACCTTATTTTTCA | 4867 |
rs767691280 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182050 | AGAGCTTGAAGATTA[C/T]GTTTCTGAATTAAGA | 4867 |
rs767709452 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184274 | GCTCTCAATCTGCTA[C/T]CTCACGGAGCATGGC | 4867 |
rs767719020 | snp | C/T | 0.000131911 | 0.00812022 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110178512 | CTCCTCTTCTTTTCT[C/T]TGATTATAGTTTGCA | 4867 |
rs767726826 | in-del | -/AAT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134520 | AGTAAAAAAGCCAAC[-/AAT]ACTACAAGAAAAAAA | 4867 |
rs767763110 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204226 | ATACACGGGAGCAGT[G/T]AATGTGCCTGCTTCA | 4867 |
rs767777472 | snp | A/C | 1.64972e-05 | 0.00287199 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178418 | AAGGTAGAAAGGAAG[A/C]ATACTCAGTTATATT | 4867 |
rs767804910 | in-del | -/AA | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205327 | CAATTTTAGTATCTT[-/AA]ACTCTTTCATTAACT | 4867 |
rs767813102 | snp | A/G | 8.44431e-05 | 0.00649726 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163148 | CTGCTGAAGACAGTA[A/G]CATCAAAATGGATTT | 4867 |
rs767817885 | snp | A/G | 1.81358e-05 | 0.00301124 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129277 | GAAATGCAAAACAAC[A/G]GAAAGAATTTTATGC | 4867 |
rs767861506 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151936 | TTTGGAATCAAGAGT[A/G]ACTTCTTCTGTTTGA | 4867 |
rs767862046 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199165 | ATGATGGCCAGGCAC[A/G]GTGGCTCACGTAATC | 4867 |
rs767863629 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133352 | TCAATTCAGAATATA[C/T]AACAATTATAAACAT | 4867 |
rs767895765 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201961 | CCTTATTCCTCCACA[C/G]ACAAACCTGTTTTGA | 4867 |
rs767903825 | snp | A/G | 3.32027e-05 | 0.00407434 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110144548 | ATAAGGAGTACCACC[A/G]TTCAAGAAAAGCTCA | 4867 |
rs767903893 | snp | A/G | 6.60589e-05 | 0.00574675 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164510 | AAAAAAAACTAATGA[A/G]AAATGTTACTTGGAG | 4867 |
rs767937338 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183255 | AAGGTTGTGGGTTTA[C/T]CAGAATGAGGGAAAG | 4867 |
rs768012108 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158093 | GTTTTTAAATTTACA[A/T]GTATTTAAGTATTTT | 4867 |
rs768084215 | in-del | -/G | | | frameshift-variant | NPHP1 | GRCh38.p7 | 2:110150206 | AAAGGTCCATGTTTT[-/G]GGCTTTTTAGGTTGC | 4867 |
rs768096448 | in-del | -/A | 1.77609e-05 | 0.00297995 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161573 | AAATCTGGAAGAGTT[-/A]ACACTTTTACTGATA | 4867 |
rs768137941 | snp | C/T | 4.94189e-05 | 0.00497062 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123942 | GTGATAACTTTCCAC[C/T]GTGCAGTCTCAGTCT | 4867 |
rs768162546 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131467 | AATGTGAAAATACAT[A/G]TGTTTGAAAGAACTG | 4867 |
rs768169550 | snp | G/T | 1.65556e-05 | 0.00287707 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147913 | ATCTTTCAACGGACA[G/T]ACATTGCGAATATAA | 4867 |
rs768263728 | snp | C/G | 1.6819e-05 | 0.00289987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148049 | GATAAAGAAATTAAA[C/G]TTATTGATAAAAATA | 4867 |
rs768309162 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185436 | AGAACACTGGCAGAG[A/G]CTGCACTCCCTCCTC | 4867 |
rs768323721 | snp | C/T | 0.00101924 | 0.0225517 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125293 | CAGGCCATTTTTTTT[C/T]CCCTTCTCTTGGTGA | 4867 |
rs768355265 | snp | C/T | 4.94222e-05 | 0.00497078 | missense | NPHP1 | GRCh38.p7 | 2:110125666 | TTAATGTGCTTTCTT[C/T]TCCAGCCCACGAACT | 4867 |
rs768356303 | snp | C/T | | | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147822 | AAATTCAATTACACA[C/T]AAAGACTTCAAGGAT | 4867 |
rs768442964 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132526 | CAGGTTTGGTGGCGG[A/G]CACCTGTAATCCCAG | 4867 |
rs768448955 | snp | C/T | 3.2969e-05 | 0.00405998 | missense | NPHP1 | GRCh38.p7 | 2:110143618 | TTCTCATTGTCATAA[C/T]CTGGTAGAAAACACT | 4867 |
rs768454850 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157515 | TATACTCAGCATGTG[C/G]AAAACCAAGCCCATG | 4867 |
rs768470265 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201690 | TTATTTGATCTATCC[A/G]TCAACCCACCTTATG | 4867 |
rs768487951 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155772 | TGTATCTGGAAAATA[A/G]CTAGCTTGCTTTTGA | 4867 |
rs768515725 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191341 | CTTTTCCCACAGTCT[C/T]AGCAAACGGCACACC | 4867 |
rs768595816 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179956 | TAAGGAAGAACGCTG[G/T]ACTTTAAAATGCTTC | 4867 |
rs768596768 | snp | C/T | 3.367e-05 | 0.00410291 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178372 | TAAACATTAAAGCTA[C/T]TGGTGATATATCTTT | 4867 |
rs768608137 | snp | C/T | 4.96718e-05 | 0.00498331 | missense | NPHP1 | GRCh38.p7 | 2:110163102 | CTGCAGGAATAGCTC[C/T]CATCGTAGTTAACAC | 4867 |
rs768651391 | snp | A/C | 1.66963e-05 | 0.00288927 | missense | NPHP1 | GRCh38.p7 | 2:110204922 | TTCAGCTCCTGATTG[A/C]GGCGCCGCAGGGCCT | 4867 |
rs768651862 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186638 | GTCTCCCCCATGCTG[C/T]CCTATGACCAAAGGC | 4867 |
rs768685825 | in-del | -/TA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198804 | GGAAGGACCCCTCTC[-/TA]TCTAACAGTAGAAAA | 4867 |
rs768697759 | snp | A/T | 1.65575e-05 | 0.00287724 | stop-gained | NPHP1 | GRCh38.p7 | 2:110144499 | GAGCCATACCTCTTC[A/T]GGATATTGAAGGGTC | 4867 |
rs768726180 | snp | A/G | 1.65119e-05 | 0.00287327 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123754 | GTGGAGGATCCATCT[A/G]ATTCCGTGGGAAGCT | 4867 |
rs768743091 | snp | A/G | 5.00597e-05 | 0.00500273 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168418 | GCGAAAAAAAAAAAA[A/G]TCTTAGAAAAGGAAG | 4867 |
rs768779070 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168034 | TATATATCTTGGCAC[A/G]GAAAATGACCATGTT | 4867 |
rs768812486 | snp | C/G | 4.94279e-05 | 0.00497107 | missense | NPHP1 | GRCh38.p7 | 2:110165095 | TTTCATCCACCGCCT[C/G]TACATCTTCTTCACT | 4867 |
rs768814952 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182530 | ACCCAGAATTTCAAA[A/T]CCGGCCAAACTAAGC | 4867 |
rs768821407 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165561 | CCCTTTCCAATCATG[A/C]TACAAAATCAAAAAT | 4867 |
rs768826120 | snp | C/T | 1.64738e-05 | 0.00286995 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123878 | TCCGTCTGGTGACAG[C/T]AGAGCTTGGAGGGCG | 4867 |
rs768832454 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177994 | ATCCTCCTGCCTCAG[-/C]CCTTCCAAAATGCTG | 4867 |
rs768842534 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143449 | AATATTATAACAAAA[C/G]ATGACTAAATATGAG | 4867 |
rs768894644 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183635 | TGACCGAGCTGGTCT[C/T]GGCAACCCAGATTCA | 4867 |
rs768931319 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175424 | TTTCTCAGCTTTTGT[G/T]TGCCTGAAAATGTCT | 4867 |
rs768932554 | snp | C/T | 1.72478e-05 | 0.00293659 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144607 | GACAGATATAAGCTG[C/T]GGGCATGTAGAAAAC | 4867 |
rs768932601 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127373 | TAATACACTATGCCA[C/T]GGAGAGAAGAAGGCT | 4867 |
rs769036427 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188934 | GATGCTGGAAGAGCT[A/G]GCTAGCTATACGCAG | 4867 |
rs769066856 | snp | G/T | 1.64963e-05 | 0.00287192 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160077 | AAGAATCTAAGGGAA[G/T]GTTTCTCCATAATCC | 4867 |
rs769092614 | snp | G/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206641 | TAGAAAAAATTATTC[G/T]GCATCTACTTATTTA | 4867 |
rs769142931 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205229 | CCCCACAATACATCA[A/G]TAATAACACCACCTT | 4867 |
rs769143199 | in-del | -/AA | 1.64846e-05 | 0.0028709 | frameshift-variant, intron-variant | NPHP1 | GRCh38.p7 | 2:110178486 | TGGGTAAGCTTGTCC[-/AA]AAGAGTATGCTCCTC | 4867 |
rs769156759 | snp | A/C | 1.64798e-05 | 0.00287047 | missense | NPHP1 | GRCh38.p7 | 2:110160233 | GTCAGAATCAATGAA[A/C]TACGACTTGGTCTCG | 4867 |
rs769160488 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154819 | ATAAGGGAAGTGGAG[A/C]ATAAAGGTTTGGAAA | 4867 |
rs769196326 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188045 | CCATATATGACAAAC[C/T]GACAGCCAATATCAT | 4867 |
rs769223859 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193762 | ATAGTTGGAAGTAAA[-/G]CACTCCTCAGCAAAT | 4867 |
rs769228731 | snp | A/T | 6.72619e-05 | 0.00579883 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164504 | AAAAAAAAAAAAAAC[A/T]AATGAGAAATGTTAC | 4867 |
rs769228866 | snp | A/C | 2.70435e-05 | 0.00367709 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179588 | TACTTGTATAGGAAG[A/C]GATGTTTTAATAATG | 4867 |
rs769248518 | snp | A/G | 1.78271e-05 | 0.0029855 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131653 | GAAGCATTACTGCAC[A/G]TAAGGAAGTGGCAAA | 4867 |
rs769266828 | in-del | -/TCT | 1.6473e-05 | 0.00286988 | cds-indel, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123957 | CGTGCAGTCTCAGTC[-/TCT]TCTTCTGCCCACCTG | 4867 |
rs769274190 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134353 | AGTAATTTAAAAAAT[A/C]TCCTGATAAAGAAAA | 4867 |
rs769287629 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152932 | AAAAATCCCCAAATT[A/T]GACAAAAGACATAAA | 4867 |
rs769375870 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177172 | CAACCCTGCTTGGTA[A/G]ATGCTCAGTGGCTTC | 4867 |
rs769443940 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151615 | AGGAATATAGGAGTA[C/T]TTTATGGGCAGCTGG | 4867 |
rs769483039 | snp | A/T | 0.000124774 | 0.00789755 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125242 | TATAGCAAGGTAAGC[A/T]GGAGCAATGCATTGT | 4867 |
rs769493226 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160651 | TAAGATTATCCCCAC[A/T]ATTTTTTATTCCAAG | 4867 |
rs769509705 | snp | C/T | 3.29794e-05 | 0.00406061 | missense | NPHP1 | GRCh38.p7 | 2:110169868 | CGATGTATTCTTCAC[C/T]GGTTGACCATTTGTG | 4867 |
rs769539430 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154678 | GACTGGTGGCATTTT[G/T]CCCCTGCCCTAGAGA | 4867 |
rs769541353 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171935 | AAAATGATTTGAAAG[C/T]GTTTCTTCTTTGTTC | 4867 |
rs769658332 | in-del | -/G | 1.66286e-05 | 0.0028834 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148034 | CGAGTAACCTGAAAT[-/G]ATAAAGAAATTAAAG | 4867 |
rs769738344 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170679 | ATAGTGCAATAGGTA[C/T]TAGAGTAGAGGTATA | 4867 |
rs769751381 | snp | G/T | 1.65384e-05 | 0.00287557 | missense | NPHP1 | GRCh38.p7 | 2:110169985 | CTTCCTCTTCTTCAG[G/T]AGGTGCCCCAACTCT | 4867 |
rs769825130 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185346 | GGGACCCCAGGTCCA[A/G]AAAGGATGAGGAACT | 4867 |
rs769839687 | snp | A/G | 1.75832e-05 | 0.00296501 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163007 | ACGTGGATCTTGACT[A/G]CTTTGCTGAAAGAGT | 4867 |
rs769929178 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159927 | ATATACACAATTAAA[A/G]CTATAAATTTCCATC | 4867 |
rs769966793 | snp | A/T | 5.02306e-05 | 0.00501127 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144459 | CTATTTGTTTAATCT[A/T]TAAGGAAAGGAAGAC | 4867 |
rs770023077 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181292 | CCAAAAAGCAGCCAG[A/T]CTGCTTCTTTAAGTG | 4867 |
rs770032884 | snp | A/G | 1.8492e-05 | 0.00304067 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110201456 | TTTATTGGGTTCTAG[A/G]GCTTCTTTCAGTTGG | 4867 |
rs770061893 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181402 | GCTGGCAACAAATCA[A/G]TACTCTCCTGGGACA | 4867 |
rs770078023 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186793 | CACAAACCACACTGC[C/T]TGATGGGGCTCAGTG | 4867 |
rs770134381 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190227 | CAGTCCCACACCGTG[C/T]GCCCGCACTCCTCAG | 4867 |
rs770163513 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205126 | GGTGGTCATCCCACG[C/T]CACCAGGCAGGTCAC | 4867 |
rs770196055 | in-del | -/A | 2.78195e-05 | 0.00372947 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179695 | TACATCTAAATTAAG[-/A]AAAAAAAGAAAATAT | 4867 |
rs770213561 | snp | A/G | 1.64773e-05 | 0.00287026 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150146 | TATGTTCTACTTTGA[A/G]ATTCACTCACTCCAC | 4867 |
rs770215794 | snp | C/T | 1.64768e-05 | 0.00287021 | missense | NPHP1 | GRCh38.p7 | 2:110165089 | CTGCTGTTTCATCCA[C/T]CGCCTCTACATCTTC | 4867 |
rs770266229 | snp | C/G | 6.95132e-05 | 0.00589506 | missense | NPHP1 | GRCh38.p7 | 2:110129239 | TGGGGAAGGTGGCCA[C/G]CATGGGATGGCTAAT | 4867 |
rs770286793 | snp | A/C | 1.6701e-05 | 0.00288968 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178384 | CTATTGGTGATATAT[A/C]TTTAAAAAAGAAAAA | 4867 |
rs770295114 | snp | C/T | | | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123199 | GTGCCTGAAAGTTTC[C/T]TTTTGTGCTTTTGAC | 4867 |
rs770306007 | snp | A/G | 3.32358e-05 | 0.00407637 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165204 | ACTAATGCAAAAAAC[A/G]ACCAATAAAAATACC | 4867 |
rs770323636 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163700 | GAGTCTCACTCTGTC[A/G]CCCAGGCTGGAGTAC | 4867 |
rs770327092 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204034 | GTTCCCTTCTATGCT[A/G]TTCTGTGTATATTAT | 4867 |
rs770365238 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182196 | GGAAAAATGGAACCA[C/T]GTTGAAAAACATACT | 4867 |
rs770396154 | snp | C/T | 1.64836e-05 | 0.0028708 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150286 | TCCCTTTTGAAATCA[C/T]GTAAAAAGCTCTTTG | 4867 |
rs770421127 | in-del | -/AA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143368 | AGTAAATAGAAGAGT[-/AA]GCTAATTTCAGCTTT | 4867 |
rs770484981 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173822 | TACATGTAATTAGAT[C/T]ACGGTGGTTAAGGAT | 4867 |
rs770505694 | snp | C/T | 1.64822e-05 | 0.00287068 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178468 | GCAAGGCCCTGCAGT[C/T]GTTGGGTAAGCTTGT | 4867 |
rs770549216 | in-del | -/TTTATT | 3.45483e-05 | 0.00415607 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160283 | TTAGTTATAAAAAAG[-/TTTATT]TTTATGATTTCTAAC | 4867 |
rs770558425 | snp | C/T | 1.64762e-05 | 0.00287016 | stop-gained, intron-variant | NPHP1 | GRCh38.p7 | 2:110164571 | TCTGCTCTGTACATT[C/T]CATGCCCTGAACCCT | 4867 |
rs770593790 | snp | A/G | 1.65776e-05 | 0.00287898 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164495 | TTTTGTACAAAAAAA[A/G]AAAAAAACTAATGAG | 4867 |
rs770638957 | in-del | -/G | 1.64803e-05 | 0.00287052 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168403 | AATGTTTTATTAAAA[-/G]CGAAAAAAAAAAAAG | 4867 |
rs770668864 | snp | A/C | 1.87243e-05 | 0.00305971 | utr-variant-5-prime, upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205015 | TTGCCAGGGAAACCA[A/C]CCGGCGGCGCCAGAA | 4867 |
rs770673635 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175348 | TTCAATGTGGGATCA[C/T]TGTCTGCTAGCCTGA | 4867 |
rs770705982 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129650 | ACTAGGAAGCATTGG[A/G]GGGAAAGGAGACAGA | 4867 |
rs770744123 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184629 | AGCTGGAACATCTCT[C/T]GCTTCCTGCACCTCT | 4867 |
rs770752123 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168258 | TCCAGGGCTCACATG[C/T]GTAAGAGCACTTCAC | 4867 |
rs770771044 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110198903 | CCTAATAAAGAAAAC[C/T]GGCAACGTGAAGATA | 4867 |
rs770771907 | snp | C/T | 1.65869e-05 | 0.00287979 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146708 | AGTCTAAAAAATGAA[C/T]TTTTACAGAAGTATT | 4867 |
rs770844638 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128723 | TAGGCTAAACCATAT[A/G]AAACTGCCACTTAGG | 4867 |
rs770845717 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169419 | CAGGCCAACCAAGCA[C/T]GGATGTAAGCCCCTC | 4867 |
rs770849686 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204050 | TTCTGTGTATATTAT[A/G]TAAGTAACAATGTGA | 4867 |
rs770859774 | snp | C/T | 1.6473e-05 | 0.00286988 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123911 | CTGGTTTTCTTGGTT[C/T]TGCTTAAGGAAGTCA | 4867 |
rs770866087 | snp | A/C | 0.0134403 | 0.0808673 | missense | NPHP1 | GRCh38.p7 | 2:110146798 | AAAAGTTTAAGAAAC[A/C]CCCAGCCACAGCTTA | 4867 |
rs770905230 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183651 | GGCAACCCAGATTCA[C/T]ACAGCAAGTTCTTAT | 4867 |
rs770930106 | snp | C/T | 1.64871e-05 | 0.00287111 | missense | NPHP1 | GRCh38.p7 | 2:110169850 | CAGTAAAATCTCCAA[C/T]AGCGATGTATTCTTC | 4867 |
rs770930135 | snp | C/T | 1.78204e-05 | 0.00298494 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160298 | TTTATTTTTATGATT[C/T]CTAACACAAATCTGT | 4867 |
rs770956057 | snp | C/T | 1.64735e-05 | 0.00286993 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124012 | GGAGAAGTGGGAGCA[C/T]GCAGTCATGGTAAAC | 4867 |
rs770972169 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160566 | ACTGTATTCCAGTCC[C/T]GGTTCACTCCTACAG | 4867 |
rs770972541 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144866 | AACGTGTTCAGACCT[G/T]AATGACTTACATTAA | 4867 |
rs770996244 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155570 | GAGCTGCCCAAGACC[A/G]TGTGAACCCACCTCT | 4867 |
rs771017776 | snp | C/G | 1.65946e-05 | 0.00288046 | missense | NPHP1 | GRCh38.p7 | 2:110161668 | GCATGAGCTCTGGTT[C/G]TAAGAAGTAATTTGC | 4867 |
rs771024630 | snp | A/C | 2.71264e-05 | 0.00368272 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131814 | AGAAGAAAAAAATGT[A/C]TTCATTAGACAATCC | 4867 |
rs771059982 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145859 | GAAACCTGGCACCCC[A/C]GGTAATGCACCCTCT | 4867 |
rs771065156 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154471 | AGAGGTTGGAACAGT[C/T]TGGAGGGCTCAGAAG | 4867 |
rs771239434 | snp | A/G | 1.64806e-05 | 0.00287054 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110143579 | TGTTCAAGGATCTCA[A/G]TTTCACTAGAAGTTG | 4867 |
rs771244613 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148119 | CCCCACCAAATTTCA[C/T]GTTGAATTGTAATCC | 4867 |
rs771264756 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206900 | CTAGATCAGCATCAT[C/T]ACCACCTGGGACCTT | 4867 |
rs771320625 | snp | C/T | 1.6477e-05 | 0.00287024 | missense | NPHP1 | GRCh38.p7 | 2:110165071 | GCTTAACTTCTGCTC[C/T]ATCTGCTGTTTCATC | 4867 |
rs771400547 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181264 | CCCCTCCTAATGTAT[C/G]ATATGTGCTCTACCA | 4867 |
rs771404672 | snp | A/G | 1.69743e-05 | 0.00291322 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148058 | ATTAAAGTTATTGAT[A/G]AAAATAAAAAATGGG | 4867 |
rs771441869 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141665 | GAGTGCAAAGTGCTA[C/T]AGTCATTTTGAAAAC | 4867 |
rs771446005 | snp | C/T | 1.65332e-05 | 0.00287512 | missense, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147926 | CATACATTGCGAATA[C/T]AAGAAATTCCAAGTT | 4867 |
rs771478106 | in-del | -/AAAAAAG | 1.66735e-05 | 0.00288729 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178388 | TGGTGATATATCTTT[-/AAAAAAG]AAAAAAGAAAGGTAG | 4867 |
rs771480687 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162314 | CATAGAGCTATAAAG[A/G]GTGTTCACATGAATG | 4867 |
rs771500465 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143892 | CTGACTCCAGGTAGA[A/G]CCAACTGCATCCCAG | 4867 |
rs771519149 | snp | C/T | 0.000181553 | 0.00952593 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170009 | CAACTCTACAAAAAG[C/T]GTTTCTGAGTAGGAC | 4867 |
rs771626419 | snp | A/G | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110125251 | GTAAGCAGGAGCAAT[A/G]CATTGTTTTCAATAT | 4867 |
rs771738304 | snp | A/C | 1.67624e-05 | 0.00289498 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178378 | TTAAAGCTATTGGTG[A/C]TATATCTTTAAAAAA | 4867 |
rs771813822 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202291 | AAGATAAAGTGGATG[-/A]AAAAAGAGAAAATTC | 4867 |
rs771874665 | snp | A/G | 0.000132035 | 0.00812404 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123762 | TCCATCTGATTCCGT[A/G]GGAAGCTGAGGGCTA | 4867 |
rs771889228 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157573 | CAGTGTTCCCCATCT[C/T]ATTGAATGTTGCCAC | 4867 |
rs771889379 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197643 | TTTGTAACCATGAGG[A/G]GAGACATCACCAACA | 4867 |
rs771900475 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186695 | AGGTGTGTGTGAAAG[C/T]GATGTAGCACCCCAC | 4867 |
rs771905155 | snp | A/G | 1.65241e-05 | 0.00287433 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143534 | GACAGGTAAAAGCAG[A/G]TACCCACCTTAGTAC | 4867 |
rs771907915 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163772 | TTCAAGCAATTCTCC[C/T]GCCTCAGCCTCCCCA | 4867 |
rs772012716 | snp | C/T | 1.65411e-05 | 0.00287581 | missense | NPHP1 | GRCh38.p7 | 2:110144513 | CTGGATATTGAAGGG[C/T]CCACTTCAATACCTT | 4867 |
rs772040052 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197192 | TGCAGGGCTTAATAC[C/G]TAGGTGATGGGATGA | 4867 |
rs772049082 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158542 | TGTCTTCTTGGTGAA[C/T]GATCTCTTTTATCAC | 4867 |
rs772075017 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166465 | AGCAACAGTTGAAAG[-/T]TTTTTTTGTGTAACT | 4867 |
rs772102769 | snp | G/T | 1.72394e-05 | 0.00293589 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144606 | TGACAGATATAAGCT[G/T]TGGGCATGTAGAAAA | 4867 |
rs772122050 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183523 | GTTCAATGCTCTCAG[C/T]TCTGAAAGCTGTGAG | 4867 |
rs772126778 | snp | A/T | 1.65198e-05 | 0.00287395 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168438 | AGAAAAGGAAGGCAT[A/T]AACCAAGACTAACCT | 4867 |
rs772132792 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170183 | CTGGAGAGACTGAGG[-/C]GGAGAGGGAGCTGAG | 4867 |
rs772149290 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170206 | GAGCTGAGTCATGTA[A/T]GTGAGATGGCAGAGC | 4867 |
rs772161189 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172189 | TATTCACACAAGTTG[C/T]TCATAGTCTTTTCAT | 4867 |
rs772166657 | snp | C/T | 9.91244e-05 | 0.00703934 | missense | NPHP1 | GRCh38.p7 | 2:110168547 | TTACAAGGAGAATTT[C/T]CCCTTTCTTAAAGCA | 4867 |
rs772201177 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132552 | CCCAGCTACTCAGAG[C/G]CCAAGGCAGAAGAAT | 4867 |
rs772208521 | snp | A/C | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206827 | GTGTGAAGATGTTTG[A/C]CTTTATACATTTTTG | 4867 |
rs772222134 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205433 | GCCATTTAGGCTACT[A/G]AAGTTTCATTTCATT | 4867 |
rs772235319 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152965 | TATAGATTGAAGAAG[C/G]TGAGCAAACCCCAAG | 4867 |
rs772244609 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129550 | CTGTGTTTTTCTTCA[A/G]CTTCTCTTTCTTCCT | 4867 |
rs772246427 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128598 | CCTTCTTTGCTGCCT[A/T]CTTTAAATCTTCAAG | 4867 |
rs772249010 | snp | A/C | 1.70003e-05 | 0.00291545 | missense | NPHP1 | GRCh38.p7 | 2:110131679 | GCAAAGCCCACTTAC[A/C]AGTACTTTGCAAGCT | 4867 |
rs772330833 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165844 | TGATAAGCACTCAAG[G/T]TGATGGAAATCTCAA | 4867 |
rs772393024 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134530 | CAACAATACTACAAG[-/A]AAAAAAAAAAAAAAA | 4867 |
rs772404584 | snp | A/G | 1.656e-05 | 0.00287745 | missense | NPHP1 | GRCh38.p7 | 2:110161659 | GTTGTGAAGGCATGA[A/G]CTCTGGTTGTAAGAA | 4867 |
rs772440299 | snp | A/G | 2.08635e-05 | 0.00322976 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110201426 | CATACTTTACCTTTG[A/G]TAAATATGTTGTCTT | 4867 |
rs772460344 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179059 | AAGGGGAGTAATATA[C/T]AGCTGGAGAGCTGAC | 4867 |
rs772522565 | snp | C/T | 4.43037e-05 | 0.00470636 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110179636 | TACTTTGCTTAATTT[C/T]TGAAGAGCATTTTTA | 4867 |
rs772530512 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152731 | CCTTTTAATGGATCA[C/G]TGACATATCTGACAT | 4867 |
rs772549591 | snp | C/T | 1.64754e-05 | 0.00287009 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164612 | CATTGGTGTCTTCCA[C/T]AGTCTCCATCCTATT | 4867 |
rs772561223 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188967 | AATTGAAACTAGAAC[C/T]CCTTCCATACACCAT | 4867 |
rs772581302 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155544 | TTATACCCTGCAAAA[C/G]AACAGGGGCTGAGCT | 4867 |
rs772631132 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188982 | CCCTTCCATACACCA[C/T]ATACAAAAATTAATT | 4867 |
rs772635725 | snp | A/C/G | 9.92021e-05 | 0.00704218 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146847 | TTGACTAGGAAATAA[A/C/G]ACAAGTATATGAAAC | 4867 |
rs772635855 | snp | C/T | 1.6531e-05 | 0.00287493 | missense | NPHP1 | GRCh38.p7 | 2:110164726 | CACTCCAGTGGGGAT[C/T]AGTTCTGGGGAGACA | 4867 |
rs772643714 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143947 | GAAGGCAGGACTGGC[A/G]TTGTGGGGTCAGCAG | 4867 |
rs772655296 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186679 | TATGGGCCAAAGGAG[C/T]AGGTGTGTGTGAAAG | 4867 |
rs772657933 | snp | A/G | 1.6476e-05 | 0.00287014 | missense | NPHP1 | GRCh38.p7 | 2:110125678 | CTTTTCCAGCCCACG[A/G]ACTCTAAAGAGCAAA | 4867 |
rs772662589 | snp | C/T | 5.02021e-05 | 0.00500984 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178381 | AAGCTATTGGTGATA[C/T]ATCTTTAAAAAAGAA | 4867 |
rs772720024 | in-del | -/T | 1.64735e-05 | 0.00286993 | frameshift-variant | NPHP1 | GRCh38.p7 | 2:110150210 | GTCCATGTTTTGGGC[-/T]TTTTAGGTTGCCATG | 4867 |
rs772753712 | snp | A/G | 1.64972e-05 | 0.00287199 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170020 | AAAGTGTTTCTGAGT[A/G]GGACTACTTGAAATA | 4867 |
rs772821566 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177132 | TGTAGGATTTGCTTC[A/G]TGTGTCTCCCTATAT | 4867 |
rs772824766 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173607 | TGTTACAATTGTGTA[C/T]AGTATTCAGCACAGT | 4867 |
rs772883664 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165861 | GATGGAAATCTCAAA[C/T]ACCCTGACTTGATTA | 4867 |
rs772923185 | snp | A/C | 1.71226e-05 | 0.00292592 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163030 | GAAAGAGTGCAGTGG[A/C]TGATAGGCACGCATT | 4867 |
rs772923470 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157575 | GTGTTCCCCATCTCA[C/T]TGAATGTTGCCACCA | 4867 |
rs772925890 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128662 | ATGTTACCTGTGTAT[C/T]TGCCTTGCATGCATG | 4867 |
rs772937054 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182836 | ATGCCCCAATTAAAA[A/C]GACACAGAATGGCAA | 4867 |
rs772953015 | in-del | -/G | 1.6473e-05 | 0.00286988 | frameshift-variant, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123977 | TCTGCCCACCTGAAT[-/G]GGGGGTAGGCGTGTG | 4867 |
rs773063643 | snp | C/T | 1.66924e-05 | 0.00288893 | missense | NPHP1 | GRCh38.p7 | 2:110204928 | TCCTGATTGCGGCGC[C/T]GCAGGGCCTGGAGAG | 4867 |
rs773100912 | snp | C/G | 1.65416e-05 | 0.00287586 | missense | NPHP1 | GRCh38.p7 | 2:110144517 | ATATTGAAGGGTCCA[C/G]TTCAATACCTTTTTC | 4867 |
rs773110367 | snp | A/G | 3.29951e-05 | 0.00406159 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123774 | CGTGGGAAGCTGAGG[A/G]CTAGAGGCTGCCACT | 4867 |
rs773132396 | snp | A/T | 3.29717e-05 | 0.00406015 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160120 | ATTTACTTCTCAGTA[A/T]CCTTACCTTATTACC | 4867 |
rs773151782 | snp | A/T | 0.000624236 | 0.0176558 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110205009 | CTCCAGTTGCCAGGG[A/T]AACCAACCGGCGGCG | 4867 |
rs773168167 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197226 | GTCCAGTAAACCAGT[A/G]TGGCACACGTTTACC | 4867 |
rs773223962 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158548 | CTTGGTGAACGATCT[C/G]TTTTATCACTATGTA | 4867 |
rs773224504 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189023 | TAAAGACTTAAATGT[A/G]AAACCCAAAACTATA | 4867 |
rs773228769 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127866 | ATATTCCTGTGGCCA[G/T]CACAGTGCCTTATAT | 4867 |
rs773241836 | snp | C/T | 0.000265962 | 0.0115287 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168566 | TTTCTTAAAGCAAAA[C/T]AAAGTAAACCATTTT | 4867 |
rs773254826 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152037 | CATTTCAGAAAACTG[C/T]AGCCACAGAGGGTGA | 4867 |
rs773279154 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188204 | TAAGGAGTATTCAAA[C/T]AGGAAGAGAGGAACT | 4867 |
rs773288325 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126978 | TTTGGGAATAGCAAA[C/T]GTGTTAAAGGTCACT | 4867 |
rs773298879 | in-del | -/TCC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128180 | TTGTAGATGACTGAG[-/TCC]TCCTTCTGTTTCTGC | 4867 |
rs773395717 | in-del | -/ATT | 7.5815e-05 | 0.00615644 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201520 | CATTTAAAATATCAC[-/ATT]ATTAAATACCATATC | 4867 |
rs773397224 | snp | A/G | 1.65924e-05 | 0.00288027 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160261 | TCGACCTAATCTGAA[A/G]GAAAAATTAGTTATA | 4867 |
rs773398593 | snp | C/T | 2.59548e-05 | 0.00360232 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131811 | TAAAGAAGAAAAAAA[C/T]GTATTCATTAGACAA | 4867 |
rs773433605 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167633 | TTTCCTGAGTTCTGT[A/G]AATCATTCTAGTAAA | 4867 |
rs773464689 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168879 | ATTCAATTACTGCGT[A/G]AAATATTTTTGAATG | 4867 |
rs773486730 | snp | A/T | 1.69769e-05 | 0.00291345 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110131680 | CAAAGCCCACTTACC[A/T]GTACTTTGCAAGCTC | 4867 |
rs773540778 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161080 | CTGAAGTGGGAGGGT[C/T]GCTTGAGCCCAGGAA | 4867 |
rs773579130 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179123 | GTCTCTGGACCTGGA[C/G]ATCTAGCTGTAGCCA | 4867 |
rs773689440 | snp | C/G | | | missense | NPHP1 | GRCh38.p7 | 2:110146829 | ACTCTCCTCTTTCAC[C/G]AGTTGACTAGGAAAT | 4867 |
rs773781058 | snp | C/T | 3.30726e-05 | 0.00406635 | splice-acceptor-variant | NPHP1 | GRCh38.p7 | 2:110164732 | AGTGGGGATCAGTTC[C/T]GGGGAGACAAAATAG | 4867 |
rs773802173 | snp | C/T | 1.6549e-05 | 0.0028765 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124084 | AAAACACCACCCCCA[C/T]AAATAACATTGTTAT | 4867 |
rs773810185 | snp | A/C | 1.65436e-05 | 0.00287602 | missense, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147920 | AACGGACATACATTG[A/C]GAATATAAGAAATTC | 4867 |
rs773828469 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188985 | TTCCATACACCATAT[A/G]CAAAAATTAATTCAA | 4867 |
rs773842752 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176552 | TTACATGACTCACTT[A/G]CAGACTTTGGATTAT | 4867 |
rs773874184 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124302 | ACGTGGCTCCATGAG[A/G]CCAGGGTGTCTCCTA | 4867 |
rs773898505 | snp | G/T | 3.70007e-05 | 0.00430105 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125349 | TTTTTAAAAATAAAA[G/T]AAATTTGATACACAA | 4867 |
rs773912204 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172359 | CTGTTTATTGTTCAC[C/T]GTTTTCTGCTTTTAT | 4867 |
rs773917155 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152862 | TAGATAGAGGGAAAC[A/G]GCACTGGAAGAAATA | 4867 |
rs773930736 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139844 | AGGAGAAGGACTATT[A/G]GTGTCATTACCCGTC | 4867 |
rs773935752 | in-del | -/A | 3.60004e-05 | 0.00424251 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161557 | AATTGCAACTATGAC[-/A]AAAATCTGGAAGAGT | 4867 |
rs773956915 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132559 | ACTCAGAGGCCAAGG[C/G]AGAAGAATCCCTTGA | 4867 |
rs773959679 | snp | A/C | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205235 | AATACATCAATAATA[A/C]CACCACCTTCTTGCT | 4867 |
rs773981331 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157545 | GTCAACTCCTCCAAA[C/T]GTGGTCCTCTTCCAG | 4867 |
rs774076023 | snp | C/G | 1.64944e-05 | 0.00287175 | stop-gained | NPHP1 | GRCh38.p7 | 2:110169873 | TATTCTTCACCGGTT[C/G]ACCATTTGTGAGATT | 4867 |
rs774100062 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142173 | CAAACCTAGAAACAA[C/G]CCAAATGCCCTTCAA | 4867 |
rs774150071 | snp | C/T | | | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123734 | ATCATTTTATTCACG[C/T]AATCGTGGAGGATCC | 4867 |
rs774162169 | snp | C/T | 1.651e-05 | 0.0028731 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170002 | GGTGCCCCAACTCTA[C/T]AAAAAGTGTTTCTGA | 4867 |
rs774179366 | snp | G/T | 1.69631e-05 | 0.00291226 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204854 | GTGCGCGCAGCTGCG[G/T]CCGCCTGTCGCCCGC | 4867 |
rs774180536 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201700 | TATCCGTCAACCCAC[C/G]TTATGCCTTTCAAAG | 4867 |
rs774202095 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188151 | ATTCAATGCAGTGTT[-/G]GAAGTTCTGGCCTGG | 4867 |
rs774223348 | in-del | -/AAAAAAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143472 | ATATGAGGAAAAGCC[-/AAAAAAA]AAAAGCAGAGATGGT | 4867 |
rs774251781 | snp | C/T | 3.30415e-05 | 0.00406444 | missense | NPHP1 | GRCh38.p7 | 2:110143636 | GGTAGAAAACACTGC[C/T]GTGTGCTTTTAAGAA | 4867 |
rs774266237 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196914 | CAAGGACAGAAAACC[A/G]AACACTGCATGTTCT | 4867 |
rs774353462 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126576 | ATTAACTGCTGTGCT[A/G]TGGGTCCTTAGGAGT | 4867 |
rs774386187 | snp | A/C/G | 0.000116835 | 0.00764236 | missense | NPHP1 | GRCh38.p7 | 2:110204925 | AGCTCCTGATTGCGG[A/C/G]GCCGCAGGGCCTGGA | 4867 |
rs774421762 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204216 | CAAGCACCTTATACA[C/T]GGGAGCAGTGAATGT | 4867 |
rs774471406 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186957 | AAAGCAGAAATCAAG[A/G]AGTTCTTTGAAACTA | 4867 |
rs774544922 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165667 | CACATAACTTAAGCA[C/T]ATCCTGAGGGGAAAA | 4867 |
rs774552071 | snp | A/C | 0.000149752 | 0.00865179 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168420 | GAAAAAAAAAAAAGT[A/C]TTAGAAAAGGAAGGC | 4867 |
rs774634654 | snp | A/G | 1.64741e-05 | 0.00286998 | missense | NPHP1 | GRCh38.p7 | 2:110150186 | AGATTACTTACCTGG[A/G]GAGAAAAGGTCCATG | 4867 |
rs774636764 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151459 | CTTCCAAAGGAATGG[A/G]TAATAGTTAATTTTT | 4867 |
rs774660958 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110134410 | GAATTCTACCAAACC[C/T]TTAAAGAAGAATTAA | 4867 |
rs774698656 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177407 | TTCTTTTGCTTCCCA[C/T]AAATTGGGTTTGTTC | 4867 |
rs774720439 | snp | C/G/T | 3.29866e-05 | 0.00406108 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160096 | TCTCCATAATCCTAG[C/G/T]ATGAATTGATTTACT | 4867 |
rs774788201 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186579 | TCACCGGCACCCTCA[C/T]CTGTGACACCATGAC | 4867 |
rs774810198 | snp | C/G | 1.76752e-05 | 0.00297276 | splice-acceptor-variant | NPHP1 | GRCh38.p7 | 2:110129260 | GATGGCTAATTAAAT[C/G]TGAAATGCAAAACAA | 4867 |
rs774898091 | snp | G/T | 1.76624e-05 | 0.00297168 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131658 | ATTACTGCACATAAG[G/T]AAGTGGCAAAGCCCA | 4867 |
rs774951201 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160880 | CATTTAAATAACTTA[C/T]ATTAGACTGGGACTG | 4867 |
rs775002303 | snp | G/T | 3.29522e-05 | 0.00405894 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124045 | GGAGAAACGTGGACT[G/T]CAGGAACTCTTTGTC | 4867 |
rs775016349 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201634 | TACAGTGAAAACCCA[C/T]ATACCCGCTACCTAG | 4867 |
rs775022180 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204572 | ACCACTAAGTTTAGA[C/T]TGGGAGATAAGGTGG | 4867 |
rs775029927 | snp | C/T | 1.65389e-05 | 0.00287562 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146728 | ACAGAAGTATTCATT[C/T]GTTAGGAATATATAG | 4867 |
rs775082259 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200227 | GCCACTGCACTCCAG[C/G]CTGGGCGACAGAGAG | 4867 |
rs775084707 | in-del | -/CTC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157639 | CATGCCTATACCCCA[-/CTC]CTCCTCTCTCCTCCA | 4867 |
rs775154660 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145177 | CTACATGCTTTTCTT[C/T]TGAAGTCACATACTA | 4867 |
rs775265175 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110160041 | ATACTCTCTTGGGAA[C/T]TGGGGAGGAGTTGAA | 4867 |
rs775298395 | snp | A/G | 0.000125133 | 0.00790891 | intron-variant, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125246 | GCAAGGTAAGCAGGA[A/G]CAATGCATTGTTTTC | 4867 |
rs775298859 | snp | C/T | 1.75099e-05 | 0.00295883 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163011 | GGATCTTGACTGCTT[C/T]GCTGAAAGAGTGCAG | 4867 |
rs775313592 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199079 | ATCAATATGAAAACA[C/G]GAACATGATGCTATG | 4867 |
rs775356271 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176086 | CTTAAGATTTCGCTC[C/T]ATTCATCTTATCAAT | 4867 |
rs775364620 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139545 | ATTCACATTTTCACA[A/G]GATTCCTGATATCCA | 4867 |
rs775454254 | snp | C/T | | | utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123377 | TAAATTTTATTAACA[C/T]TCATAAATTTAAATA | 4867 |
rs775499946 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110131208 | CAAACGTACAAAAAA[G/T]TTGCAAGAATAAAGA | 4867 |
rs775502287 | snp | A/G | 1.64825e-05 | 0.00287071 | missense | NPHP1 | GRCh38.p7 | 2:110143608 | TGAGGCTGCCTTCTC[A/G]TTGTCATAATCTGGT | 4867 |
rs775569586 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162280 | AGACAAGCAAATAAA[C/T]AAAATAATTATTAGG | 4867 |
rs775598170 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202376 | AAATTCACACACCTA[C/G]TGATAGAGCCAGTCA | 4867 |
rs775617492 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162808 | GCTGAAAATTAAAGG[A/C]GTCACATTTTTGAAA | 4867 |
rs775624820 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141834 | AAAAATTAGCAGGGC[A/G]TGGTGGCGGGCGCCT | 4867 |
rs775634840 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133782 | CATACTTAAACAACA[A/G]TGGCTCAAAGAAGAA | 4867 |
rs775707105 | snp | A/C | 1.69885e-05 | 0.00291444 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204849 | GCGCAGTGCGCGCAG[A/C]TGCGTCCGCCTGTCG | 4867 |
rs775777863 | snp | A/T | 8.28123e-05 | 0.00643423 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164759 | ATAGCAAAGTGAGTC[A/T]GGTCAGGTTATGCCT | 4867 |
rs775783275 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187880 | TACAAATTAATAAAT[A/G]TGATTCATCACATAA | 4867 |
rs775803540 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126079 | CAATTCTCTCTGTCA[G/T]GATGATGACAATGGT | 4867 |
rs775822868 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179997 | CAACTCCATAAACCT[A/G]GGAACTAGCCTCAGA | 4867 |
rs775869913 | snp | C/T | 4.94287e-05 | 0.00497111 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110165090 | TGCTGTTTCATCCAC[C/T]GCCTCTACATCTTCT | 4867 |
rs775938527 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197513 | GAGCAGGGGGCCCAC[A/G]GCTGCCAGTGTAACA | 4867 |
rs775959809 | snp | C/T | 3.29511e-05 | 0.00405887 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150159 | GAAATTCACTCACTC[C/T]ACTCATTCAGCAGAT | 4867 |
rs775997040 | snp | A/G | 1.65302e-05 | 0.00287486 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178405 | AAAAGAAAAAAGAAA[A/G]GTAGAAAGGAAGCAT | 4867 |
rs776011486 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133057 | AGTAAGTCCTTCTCT[A/G]TTAGTAATCACTTTA | 4867 |
rs776049730 | snp | A/G | 3.29728e-05 | 0.00406021 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150293 | TGAAATCATGTAAAA[A/G]GCTCTTTGAAATGTC | 4867 |
rs776062957 | snp | C/G | 1.74093e-05 | 0.00295031 | missense | NPHP1 | GRCh38.p7 | 2:110129244 | AAGGTGGCCAGCATG[C/G]GATGGCTAATTAAAT | 4867 |
rs776085416 | in-del | -/AAAG | 0.00030739 | 0.0123936 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161730 | TCTTCATTTTCTTAC[-/AAAG]AAAGAAACTCCAAAT | 4867 |
rs776086242 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165488 | AAAGAAAAGACGTAA[A/T]GATAAAAATAAAAGA | 4867 |
rs776087035 | snp | C/T | 1.64836e-05 | 0.0028708 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178471 | AGGCCCTGCAGTTGT[C/T]GGGTAAGCTTGTCCA | 4867 |
rs776101980 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184476 | GCTATTTTCATCTCC[A/G]TGTAAGCTGTGCTCA | 4867 |
rs776122790 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183443 | AATACTTTTAGTAAA[G/T]CTATAATCTATAGAA | 4867 |
rs776124602 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175363 | TTGTCTGCTAGCCTG[A/G]AGAACTTCCTTTAAC | 4867 |
rs776149325 | snp | C/T | 4.96611e-05 | 0.00498278 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146722 | ATTTTTACAGAAGTA[C/T]TCATTCGTTAGGAAT | 4867 |
rs776175197 | snp | A/C | 1.66799e-05 | 0.00288785 | missense | NPHP1 | GRCh38.p7 | 2:110163131 | ACATCAACAGTGTTT[A/C]TCTGCTGAAGACAGT | 4867 |
rs776177647 | snp | A/C | 1.67419e-05 | 0.00289321 | missense | NPHP1 | GRCh38.p7 | 2:110204949 | GCCTGGAGAGGATCT[A/C]GCTGTCGTCTCGCCA | 4867 |
rs776331251 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148687 | TAATAGTACTGTGCC[G/T]AGGTCTCCAGAGGTG | 4867 |
rs776355144 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153316 | ATGGTTAAAGGAGAT[C/T]CTCTAAATAGGACAT | 4867 |
rs776360342 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184826 | GGCAGCACCATTGAG[A/G]TTGGTCCTTCCCAAT | 4867 |
rs776440220 | snp | A/C | 1.64874e-05 | 0.00287113 | missense | NPHP1 | GRCh38.p7 | 2:110146804 | TTAAGAAACACCCAG[A/C]CACAGCTTAACTCTC | 4867 |
rs776444944 | snp | A/C | 6.59467e-05 | 0.00574187 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169851 | AGTAAAATCTCCAAC[A/C]GCGATGTATTCTTCA | 4867 |
rs776468903 | in-del | -/G | 1.65201e-05 | 0.00287398 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123744 | TCACGTAATCGTGGA[-/G]GATCCATCTGATTCC | 4867 |
rs776477481 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170576 | CCGTGTCAGAGAGAT[A/G]CACAGTGGACACAAA | 4867 |
rs776508142 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133665 | AAATTTAAAAATATT[C/G]AAATCATACAAAATA | 4867 |
rs776519770 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183702 | CTCCCATACAATAAT[A/G]GTGGGAGACTTTAAT | 4867 |
rs776530596 | snp | G/T | 3.35166e-05 | 0.00409355 | missense | NPHP1 | GRCh38.p7 | 2:110131724 | GGAGCACATCTCCAA[G/T]AATTTGTCGATAAAA | 4867 |
rs776536661 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189315 | GTTCCTTCTGACGTT[C/T]GGATGTGTTTGGAGT | 4867 |
rs776567765 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128766 | GAAAATTGGAGATTT[C/T]ATACGATTTAACATA | 4867 |
rs776611397 | snp | A/G | 1.6473e-05 | 0.00286988 | synonymous-codon, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110124013 | GAGAAGTGGGAGCAC[A/G]CAGTCATGGTAAACC | 4867 |
rs776621301 | snp | G/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206956 | TCAGCCCCACCACAG[G/T]CCTAGGAGAATCAGA | 4867 |
rs776647994 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145922 | CTTCTACCTCTGCCA[A/G]TGTGGCAGGAGGCCA | 4867 |
rs776736457 | snp | A/C | 5.71527e-05 | 0.00534538 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131818 | GAAAAAAATGTATTC[A/C]TTAGACAATCCCCTA | 4867 |
rs776768214 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169437 | ATGTAAGCCCCTCTC[A/G]TATCTAAGCTAACAG | 4867 |
rs776816170 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110125167 | CCAAATCCTGGATGA[C/G]AGCAGTCAAACCACG | 4867 |
rs776903605 | snp | C/G | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124473 | TGTCATGTTATCTAA[C/G]ATAATTGTAGCAGGT | 4867 |
rs776924038 | snp | A/C | 2.1944e-05 | 0.00331233 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110179665 | TATTTTCATCTATTG[A/C]CTGCTTTAACTGGAT | 4867 |
rs776930668 | snp | A/G | 1.64762e-05 | 0.00287016 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164632 | TCCATCCTATTTCGC[A/G]TCAGAACTATTAGGT | 4867 |
rs776946773 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140022 | ACCCACAGCACAGCC[C/T]CACCCCGCCCCCTGA | 4867 |
rs776954065 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162334 | TCACATGAATGGGAG[C/T]AAGGGAAACCCACAT | 4867 |
rs776982716 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156067 | GAATTATGGAGGCAG[G/T]TCTTTCTTTTTTTTT | 4867 |
rs776998007 | in-del | -/TT/TTTTTT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180456 | TTGAGTCTTTTTTTT[-/TT/TTTTTT]TTTTTTTTTTTTTTT | 4867 |
rs777013624 | snp | C/T | 3.8184e-05 | 0.00436927 | missense | NPHP1 | GRCh38.p7 | 2:110201445 | ATATGTTGTCTTTTA[C/T]TGGGTTCTAGAGCTT | 4867 |
rs777024437 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163529 | CACACTACTCATAGA[A/C]ACACACCCTCACACA | 4867 |
rs777026004 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189153 | AACTTGACAAATAGG[A/T]TCTCATCAAACTAAA | 4867 |
rs777035317 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132046 | TAGCATATATACCTA[C/T]GTTAAATGTCAAATA | 4867 |
rs777043630 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166786 | TGCAACATAATCGAT[-/A]GTGATTATAGGTTGG | 4867 |
rs777079068 | snp | C/T | | | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123030 | GATTAACTGGGCTAA[C/T]GAGAAATGCTCAGAC | 4867 |
rs777096988 | snp | C/G | 1.64787e-05 | 0.00287038 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150274 | GAAATGAGATTTTCC[C/G]TTTTGAAATCATGTA | 4867 |
rs777114640 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185646 | CACTCCGCTATCAAT[A/G]CCCCCTGACTGGGCA | 4867 |
rs777155820 | in-del | -/CA | 1.67276e-05 | 0.00289197 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178589 | CTAAAAAATTAATTT[-/CA]GTTTCCTAATTTCAA | 4867 |
rs777183268 | snp | C/T | 1.7342e-05 | 0.0029446 | missense | NPHP1 | GRCh38.p7 | 2:110129224 | GCTGCTCCAAGAGCA[C/T]GGGGAAGGTGGCCAG | 4867 |
rs777193489 | snp | C/T | 1.64768e-05 | 0.00287021 | missense | NPHP1 | GRCh38.p7 | 2:110165083 | CTCCATCTGCTGTTT[C/T]ATCCACCGCCTCTAC | 4867 |
rs777196172 | snp | A/G/T | 0.000390143 | 0.0139615 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148078 | TAAAAAATGGGAAGG[A/G/T]GGTTTGATGTGGTTT | 4867 |
rs777201066 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183273 | GAATGAGGGAAAGGA[A/C]CACCTGGCCCACCCA | 4867 |
rs777254243 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197297 | CTTAAAGAAAAAAAT[-/A]AAAAAACAGTAATAA | 4867 |
rs777263574 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159509 | TGCCAGTTTCAGTAA[A/G]TTATGGTTCTCCAGG | 4867 |
rs777341909 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150657 | CAGGTACAAGTGATT[C/T]TCCTGCCTCAGCCTC | 4867 |
rs777370254 | snp | C/T | 1.64841e-05 | 0.00287085 | missense | NPHP1 | GRCh38.p7 | 2:110168496 | CATTTCCTTTGGCAT[C/T]CTTAGCTATCCACCA | 4867 |
rs777385746 | snp | A/G | 3.29549e-05 | 0.00405911 | missense | NPHP1 | GRCh38.p7 | 2:110160192 | TGCTCATTCCTGGAA[A/G]AGGAATCATTTTACA | 4867 |
rs777389474 | snp | C/T | 3.32358e-05 | 0.00407637 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178566 | TGAGAGAATATAGGT[C/T]TATTTCACTAAAAAA | 4867 |
rs777426303 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152532 | AAGGGGCTGGATTTG[C/T]ATGCTATATATCACC | 4867 |
rs777453061 | snp | A/G | | | utr-variant-5-prime, upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205022 | GGAAACCAACCGGCG[A/G]CGCCAGAAGGTGACG | 4867 |
rs777493763 | snp | A/T | 1.64822e-05 | 0.00287068 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178465 | ACAGCAAGGCCCTGC[A/T]GTTGTTGGGTAAGCT | 4867 |
rs777574728 | in-del | -/CTCTTC | 0.000297503 | 0.0121928 | NPHP1 | 2 | allele_origin=C(germline)/(germline) | 2:110169902 | TTCATTTTCCTCTTT[-/CTCTTC]CTCTTCCTCCTCTGC | 4867 |
rs777613077 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199945 | GCACAGAGAAGACTA[C/T]GGTTACTTGGGCTTA | 4867 |
rs777616968 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128138 | CAAGCTAGCATATGA[A/G]TTGGTTTCAAAGTCT | 4867 |
rs777654237 | in-del | -/TTTAGTCAAGTCTTCT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143291 | CATTGGTAAGCCCCA[-/TTTAGTCAAGTCTTCT]ATTTACTAGATGGCT | 4867 |
rs777673821 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145723 | CATTTAAAAAAATAG[C/T]TGTGACTTCACTTTC | 4867 |
rs777677768 | in-del | -/CTT | 0.000280087 | 0.0118307 | cds-indel | NPHP1 | GRCh38.p7 | 2:110165133 | CACTTGACTCTTGGC[-/CTT]CTTCTTCTTCTTCAC | 4867 |
rs777771308 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154227 | GCTCTTCTCTTGTCT[G/T]CCACCATTTGAGAGG | 4867 |
rs777845951 | snp | A/C | 4.94613e-05 | 0.00497275 | missense | NPHP1 | GRCh38.p7 | 2:110146796 | CAAAAAGTTTAAGAA[A/C]CACCCAGCCACAGCT | 4867 |
rs777862961 | snp | A/G | 1.65853e-05 | 0.00287964 | missense | NPHP1 | GRCh38.p7 | 2:110161665 | AAGGCATGAGCTCTG[A/G]TTGTAAGAAGTAATT | 4867 |
rs777885133 | snp | C/T | 1.64939e-05 | 0.0028717 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169830 | AAGATCTCCAACTTG[C/T]TGAGCAGTAAAATCT | 4867 |
rs777928928 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172238 | TGGAATCTGTATTGA[-/T]TTTTTTTTCTCTCTC | 4867 |
rs777939674 | snp | A/G | 5.01232e-05 | 0.00500591 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146887 | GAACTAGTCAAATTT[A/G]TAAGCACATACCAAG | 4867 |
rs777975462 | snp | A/G | 1.66228e-05 | 0.0028829 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169923 | CTCTTCCTCCTCTGC[A/G]TCTTCTTCCTCCCCA | 4867 |
rs778122635 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203797 | GAACTCAGTGTATTT[C/T]TAAAAAGTTTTTTTT | 4867 |
rs778125638 | snp | C/T | 3.44181e-05 | 0.00414824 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143690 | TTTAAGTACTTGAGA[C/T]AGTGAGTATAATAAA | 4867 |
rs778146724 | snp | A/G | 1.65083e-05 | 0.00287296 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161734 | CATTTTCTTACAAAG[A/G]AAGAAACTCCAAATC | 4867 |
rs778191363 | in-del | -/TTTAACATCTGTTT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110164390 | GAATAGTAAATAAAA[-/TTTAACATCTGTTT]CCACTCAAATGATAG | 4867 |
rs778263483 | snp | A/C/T | 4.09956e-05 | 0.0045273 | synonymous-codon, missense | NPHP1 | GRCh38.p7 | 2:110201429 | ACTTTACCTTTGATA[A/C/T]ATATGTTGTCTTTTA | 4867 |
rs778275368 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155364 | AATGTGGGGTTGGAG[A/C]CCCCTCACACAGAGT | 4867 |
rs778325238 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142876 | TGAGTAAGTCAGGGA[C/G]AGTCTGTACTATTTA | 4867 |
rs778354574 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204610 | AGTTGTTAGGGTAGG[A/G]GGTTGAGACGTTAGG | 4867 |
rs778432803 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203636 | TATGAGCATCAGTGA[A/C]TCTCTTACCGGCCTC | 4867 |
rs778443933 | snp | C/T | 1.68761e-05 | 0.00290478 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148053 | AAGAAATTAAAGTTA[C/T]TGATAAAAATAAAAA | 4867 |
rs778528184 | snp | A/G | 3.29478e-05 | 0.00405867 | missense | NPHP1 | GRCh38.p7 | 2:110150237 | CATGTGGCTCTGACT[A/G]TATGAATGTTGCTCA | 4867 |
rs778531895 | snp | C/T | 8.23744e-05 | 0.0064172 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125676 | TTCTTTTCCAGCCCA[C/T]GAACTCTAAAGAGCA | 4867 |
rs778555917 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124774 | AGGCCCAAGGCTGCT[A/G]TACTAGAATAGCACT | 4867 |
rs778566815 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149314 | TTCTTCCTTCTACCC[C/T]AGGAAAAACATTAAA | 4867 |
rs778604306 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150707 | GGTCCCTGTCACCAC[A/G]CCCAGCTAATTTTTG | 4867 |
rs778619698 | snp | A/T | 1.78624e-05 | 0.00298846 | missense | NPHP1 | GRCh38.p7 | 2:110129196 | CCCACCCTGAGAGCA[A/T]CCATCACATCAGGCT | 4867 |
rs778635664 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186657 | ATGACCAAAGGCCCC[C/T]GCCAGGTATGGGCCA | 4867 |
rs778663444 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173232 | GTGAGCCACCGCACC[C/T]GGCCACATGCAGTGA | 4867 |
rs778684726 | in-del | -/TCT | 1.66078e-05 | 0.00288161 | cds-indel | NPHP1 | GRCh38.p7 | 2:110169954 | CCACTGTCTTCACTA[-/TCT]TCACTTTCACTTTCT | 4867 |
rs778699213 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126643 | AAACAGGCCAAGTGC[C/G]ATTCTTCTTATTATT | 4867 |
rs778866608 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176317 | CATTTGATTTTTCTA[C/T]ATTTGAATTAAATAC | 4867 |
rs778878656 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175268 | AGGCATATAGAAAAG[-/A]AAAAAATAGGCTTTT | 4867 |
rs778889644 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182283 | TTCAGGAAATCCAGA[G/T]AACCCCAGTAAGGTA | 4867 |
rs778905635 | snp | G/T | 1.64833e-05 | 0.00287078 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178445 | TATTTTCTCTGCTTA[G/T]TGTCACAGCAAGGCC | 4867 |
rs778984918 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110202914 | GACCCAGAAATCCCA[-/T]TTTCCGTGTATATAC | 4867 |
rs778988243 | snp | C/T | 8.23621e-05 | 0.00641672 | synonymous-codon, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110123983 | CCACCTGAATGGGGG[C/T]AGGCGTGTGGAGTGG | 4867 |
rs778989858 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171923 | TTGAAAGCTTATAAA[A/C]TGATTTGAAAGTGTT | 4867 |
rs778995566 | snp | A/C | 1.67626e-05 | 0.002895 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164478 | CATGAATTATCTATT[A/C]TTTTTGTACAAAAAA | 4867 |
rs779010646 | snp | G/T | 4.94735e-05 | 0.00497336 | missense | NPHP1 | GRCh38.p7 | 2:110168526 | AACCATCAGGTTTTT[G/T]TTCAATTACAAGGAG | 4867 |
rs779025057 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145538 | CAGGTGATCCTCCCG[A/C]CAAGGCCTCCCAAAG | 4867 |
rs779032904 | in-del | -/A | 0.000304567 | 0.0123366 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131801 | AGTAGACTATTAAAG[-/A]AGAAAAAAATGTATT | 4867 |
rs779070033 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199980 | TAATTATTAGGGGCC[A/G]GGCGCGGTGGCTCAC | 4867 |
rs779083426 | snp | C/T | 1.64806e-05 | 0.00287054 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164551 | GAAACCAGAAATATA[C/T]GTCCTCTGCTCTGTA | 4867 |
rs779089046 | snp | C/G | 1.64735e-05 | 0.00286993 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123882 | TCTGGTGACAGCAGA[C/G]CTTGGAGGGCGCCCT | 4867 |
rs779098996 | snp | C/T | 3.29598e-05 | 0.00405941 | missense | NPHP1 | GRCh38.p7 | 2:110160236 | AGAATCAATGAAATA[C/T]GACTTGGTCTCGACC | 4867 |
rs779197832 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167483 | CAGGAACTTCCAGGA[C/T]GGTGAACACAGCGAA | 4867 |
rs779283033 | snp | G/T | 2.00644e-05 | 0.0031673 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161726 | TTTTTCTTCATTTTC[G/T]TACAAAGAAAGAAAC | 4867 |
rs779294306 | snp | C/G | 1.65127e-05 | 0.00287334 | missense | NPHP1 | GRCh38.p7 | 2:110169806 | TCTTATTCTACCTAC[C/G]TTAAATGTAAGATCT | 4867 |
rs779319673 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189688 | TTGGTCCATTTTACA[A/G]AGAGCCGAGTAGTCT | 4867 |
rs779382304 | snp | A/C | 1.65803e-05 | 0.00287922 | missense | NPHP1 | GRCh38.p7 | 2:110161628 | GTAGCATCCCACATC[A/C]GATCTCTGAAGGCCA | 4867 |
rs779393628 | snp | C/T | 2.16364e-05 | 0.00328903 | missense | NPHP1 | GRCh38.p7 | 2:110201421 | TTTAGCATACTTTAC[C/T]TTTGATAAATATGTT | 4867 |
rs779423615 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110187708 | ACCTGGGAGAGATAC[-/A]GCAAAAACAGAAAAC | 4867 |
rs779468599 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155307 | TTTGCTGCAGGGGCG[A/G]GGCTCTCATGGAGAA | 4867 |
rs779485989 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163138 | CAGTGTTTATCTGCT[A/G]AAGACAGTAACATCA | 4867 |
rs779501447 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169521 | CATTGCCTAACTCAC[C/T]TGAATGAATTTATAC | 4867 |
rs779502939 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180817 | CCACGGATCTCTGCA[A/G]CCCACAGATCAGGAG | 4867 |
rs779556841 | snp | G/T | 2.08062e-05 | 0.00322532 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110131788 | TAATGTTTCTGGCAG[G/T]AGACTATTAAAGAAG | 4867 |
rs779567673 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124258 | GAGTTACACAGAGTA[C/G]AGTGGAGCAGTTCTC | 4867 |
rs779581751 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161917 | GATCATCTTAAAGCA[A/C]CTTTAAGAAAGACTT | 4867 |
rs779592758 | snp | A/G | 1.64868e-05 | 0.00287109 | missense | NPHP1 | GRCh38.p7 | 2:110164698 | CCCGCCTCTGAAATC[A/G]CTTTCTGAACAGCAC | 4867 |
rs779651177 | snp | C/G | 1.64958e-05 | 0.00287187 | missense | NPHP1 | GRCh38.p7 | 2:110143546 | CAGGTACCCACCTTA[C/G]TACATTTCTTGATCT | 4867 |
rs779660988 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190779 | TCAGAATGAACAGAC[A/C]ACCTACAGAATGGGG | 4867 |
rs779662917 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178836 | GTTCTGACAGAAGAT[C/T]GGCTTTAAAGTCAAT | 4867 |
rs779667879 | snp | A/G | 0.000166127 | 0.0091124 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202382 | ACACACCTAGTGATA[A/G]AGCCAGTCATCACAG | 4867 |
rs779674098 | in-del | -/A | 1.66153e-05 | 0.00288225 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178395 | ATATCTTTAAAAAAG[-/A]AAAAAGAAAGGTAGA | 4867 |
rs779679267 | snp | A/T | 1.64972e-05 | 0.00287199 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165033 | AAACCTACTTTGATA[A/T]CCTTTCCCACTTTTG | 4867 |
rs779746002 | snp | C/T | 3.29478e-05 | 0.00405867 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110125664 | TTTTAATGTGCTTTC[C/T]TTTCCAGCCCACGAA | 4867 |
rs779747915 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140862 | ATGGCTATTGAAAGA[C/T]TGAACTGTTAACACT | 4867 |
rs779767314 | snp | A/T | 1.66275e-05 | 0.00288331 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148032 | TGCGAGTAACCTGAA[A/T]TGATAAAGAAATTAA | 4867 |
rs779768024 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124821 | GCAAAGTCACATGTA[C/T]GTAGATGGTACTGAT | 4867 |
rs779770905 | snp | C/G | 1.65392e-05 | 0.00287564 | missense | NPHP1 | GRCh38.p7 | 2:110169987 | TCCTCTTCTTCAGTA[C/G]GTGCCCCAACTCTAC | 4867 |
rs779773758 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110201633 | TTACAGTGAAAACCC[A/G]TATACCCGCTACCTA | 4867 |
rs779785080 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149026 | AAAGCCATTACAATC[C/T]GCCTGAGTGGTAGTT | 4867 |
rs779792801 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155238 | ATTGAGGTTTGGGAA[A/C]CTCTGCCTAGATTTC | 4867 |
rs779831928 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185347 | GGACCCCAGGTCCAG[A/C]AAGGATGAGGAACTA | 4867 |
rs779920973 | in-del | -/CTC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190665 | CGGCAGGCTGAAGGG[-/CTC]CTCAAGTGCCGCCAA | 4867 |
rs779960543 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172895 | TTATATTTTCTTTGA[C/T]TCACAGTTTATATAG | 4867 |
rs780033593 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133507 | CAATGAAACAGAAGA[C/T]CAATAACACTGTAGA | 4867 |
rs780040712 | snp | C/T | 1.73613e-05 | 0.00294624 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163175 | ATTTGTTTTCAGTCA[C/T]GTTTCTGCATCTCTA | 4867 |
rs780078128 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110174454 | CTAATTTAAATATCA[C/T]ATTTCACCAAAGATA | 4867 |
rs780154002 | snp | A/C | 1.6698e-05 | 0.00288941 | stop-gained | NPHP1 | GRCh38.p7 | 2:110204914 | CCTGTTGCTTCAGCT[A/C]CTGATTGCGGCGCCG | 4867 |
rs780155065 | snp | A/G | | | missense | NPHP1 | GRCh38.p7 | 2:110144567 | AAGAAAAGCTCATAA[A/G]TTCTATAAAAGAATA | 4867 |
rs780187449 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157448 | TAAGTTCATTTCTTT[A/G]CCCCAAGTTCAGATG | 4867 |
rs780236448 | snp | C/T | 3.29772e-05 | 0.00406048 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178430 | AAGCATACTCAGTTA[C/T]ATTTTCTCTGCTTAT | 4867 |
rs780265460 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128407 | ACTCCCTTACTTGCA[C/T]CTGACATGCCAAGCT | 4867 |
rs780278869 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143390 | TTTCAGCTTTGTTAC[C/T]CATTTCCCTACTGAC | 4867 |
rs780282911 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158386 | CCTATATTACTGAGA[G/T]AGAAGTGTTAAACTC | 4867 |
rs780283256 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110182197 | GAAAAATGGAACCAC[A/G]TTGAAAAACATACTT | 4867 |
rs780334731 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152868 | GAGGGAAACGGCACT[A/G]GAAGAAATAATTGGA | 4867 |
rs780380766 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171724 | AGTGAATTTCAATGA[C/T]TGATTTTTTAATGTT | 4867 |
rs780427871 | snp | C/G | 0.000230605 | 0.0107354 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123964 | TCTCAGTCTCTTCTT[C/G]TGCCCACCTGAATGG | 4867 |
rs780429142 | snp | G/T | 1.71431e-05 | 0.00292767 | utr-variant-5-prime | NPHP1 | GRCh38.p7 | 2:110204986 | CCCTGGCTGCGGTGC[G/T]CTGATTGCTCCAGTT | 4867 |
rs780438944 | snp | C/T | 1.95973e-05 | 0.00313022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129166 | GCCAGCAGGTTTCCA[C/T]TGCAATGCATGCTAC | 4867 |
rs780460385 | snp | A/G | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206558 | TACAGGTGATGAGAT[A/G]AGCAAAACGAAAAAA | 4867 |
rs780506598 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188388 | AGGCAGGCAGAGAGC[G/T]AAATCCTGAACTCAC | 4867 |
rs780512855 | snp | A/T | 1.98493e-05 | 0.00315028 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129309 | AACTTCACTCAATGG[A/T]TTTTATTGCAATAGA | 4867 |
rs780526560 | snp | C/G | 1.6643e-05 | 0.00288465 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165207 | AATGCAAAAAACAAC[C/G]AATAAAAATACCAGT | 4867 |
rs780575034 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167334 | CCAGGTATTAGAGGT[G/T]AGAACTTTCAGCCCC | 4867 |
rs780578104 | snp | A/G | 3.29647e-05 | 0.00405971 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178444 | ATATTTTCTCTGCTT[A/G]TTGTCACAGCAAGGC | 4867 |
rs780598428 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154656 | TCTTGTTATGTTTTA[G/T]TGAAGAGACTGGTGG | 4867 |
rs780605413 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128386 | TACCTTGCCCATCTA[C/T]CAACCACTCCCTTAC | 4867 |
rs780618464 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169351 | AGGCTCAAAATCACA[A/G]CTTTAAAAATCACAA | 4867 |
rs780636500 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189358 | GTGGGTTCGTGGTCT[C/T]GCTGGCTCAGGAGTG | 4867 |
rs780695089 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151144 | GCACTCCAGCCTGAG[C/T]GATGGAGCAAGATTC | 4867 |
rs780706360 | snp | G/T | 3.29538e-05 | 0.00405904 | missense | NPHP1 | GRCh38.p7 | 2:110160201 | CTGGAAGAGGAATCA[G/T]TTTACAGCTCCATAA | 4867 |
rs780711426 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177048 | GAGTAAGACTACTAT[A/T]CCCTGCTTGGAATCT | 4867 |
rs780731170 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110190089 | CTAGATACAGAGTGC[-/T]GATTGGTGTATTTAC | 4867 |
rs780738690 | snp | A/G | 1.68992e-05 | 0.00290677 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178598 | TAATTTCAGTTTCCT[A/G]ATTTCAAAAGAACAA | 4867 |
rs780741209 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167332 | ACCCAGGTATTAGAG[A/G]TTAGAACTTTCAGCC | 4867 |
rs780787243 | snp | C/T | 1.75317e-05 | 0.00296067 | missense | NPHP1 | GRCh38.p7 | 2:110131761 | CAAGTGAATAGAACA[C/T]ATATTTCCAATTAAT | 4867 |
rs780799874 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188772 | TACAGTAACTAAAAC[A/T]GCATGGTACTGGTAA | 4867 |
rs780802757 | snp | C/T | 1.64776e-05 | 0.00287028 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164669 | ACGAGACATGATTAA[C/T]AAGACAGAAGATGCC | 4867 |
rs780827924 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153919 | ACACAGGAGGCAGAG[C/G]TTGCAGTGAACTGAG | 4867 |
rs780894662 | snp | C/G | 1.67354e-05 | 0.00289265 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147893 | CTGATACATTAGAAA[C/G]CCTTATCTTTCAACG | 4867 |
rs780903606 | snp | C/T | 1.64749e-05 | 0.00287005 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164584 | TTCCATGCCCTGAAC[C/T]CTGTTTCAGATCCAT | 4867 |
rs780945788 | in-del | -/AT | 3.29516e-05 | 0.00405891 | frameshift-variant, intron-variant | NPHP1 | GRCh38.p7 | 2:110164577 | TGTACATTCCATGCC[-/AT]CTGAACCCTGTTTCA | 4867 |
rs780960884 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185484 | GCTGCAGGGAACTCC[A/G]TTTACTACCACGGGG | 4867 |
rs780967713 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185202 | GGATATCATCTTCAC[C/T]TCTCTCTGAAGTTAA | 4867 |
rs781069115 | in-del | -/CAG | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132674 | AAACAACAACAACAA[-/CAG]ATGAAATAAGTATGG | 4867 |
rs781112754 | in-del | -/ACAAC | 1.66682e-05 | 0.00288684 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144473 | TTTAAGGAAAGGAAG[-/ACAAC]ACATGAGAGCCATAC | 4867 |
rs781119161 | in-del | -/GATT | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206525 | AAATATTTCTAAGTG[-/GATT]ATTAAATCAATAATT | 4867 |
rs781154033 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175777 | ATATTTTCAGTCACT[A/G]TCTCTTTAAATATTT | 4867 |
rs781291281 | snp | C/T | 3.31719e-05 | 0.00407245 | missense | NPHP1 | GRCh38.p7 | 2:110169960 | TCTTCACTATCTTCA[C/T]TTTCACTTTCTTCCT | 4867 |
rs781302035 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157403 | GTGCAGAATGTATTA[C/T]GGAAGTGAGGGAGGA | 4867 |
rs781307014 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139255 | ACTTCTCCAGATCAG[A/G]GTTTCTTGATATTTA | 4867 |
rs781351760 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161805 | CTTCCAAAATGCCAC[A/G]CTGCTTACTAAGAAC | 4867 |
rs781356271 | snp | C/T | 1.64738e-05 | 0.00286995 | missense | NPHP1 | GRCh38.p7 | 2:110125648 | TTACCTTCTCTGATC[C/T]TTTTAATGTGCTTTC | 4867 |
rs781372067 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128165 | GTCTAATAAGAATCT[C/T]TGTAGATGACTGAGT | 4867 |
rs781391959 | snp | A/T | 1.6566e-05 | 0.00287797 | missense | NPHP1 | GRCh38.p7 | 2:110163081 | AGAGCGTGGAAGGCC[A/T]GAACCCTGCAGGAAT | 4867 |
rs781392027 | snp | C/G | 1.648e-05 | 0.0028705 | missense | NPHP1 | GRCh38.p7 | 2:110143585 | AGGATCTCAGTTTCA[C/G]TAGAAGTTGAGGCTG | 4867 |
rs781407535 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142204 | TTTGTGAATGAATAA[A/T]CACATTGTAGTATAT | 4867 |
rs781426819 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172765 | CCCAGTCTGGGTAAC[A/G]GAGACCCTGTCTCCA | 4867 |
rs781482254 | snp | A/G | 1.67781e-05 | 0.00289634 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144450 | CAGATGCTTCTATTT[A/G]TTTAATCTTTAAGGA | 4867 |
rs781491019 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191146 | TGGGTTCATCTCACT[A/G]GGGACTATCAGACAG | 4867 |
rs781531545 | snp | C/T | 4.94214e-05 | 0.00497074 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123865 | AAGGTTCATGAACTC[C/T]GTCTGGTGACAGCAG | 4867 |
rs781550945 | in-del | -/AAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163228 | TATAACCCAAAAAAG[-/AAA]AAAAATATAAACATA | 4867 |
rs781552603 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132439 | ACAGGTGAATCACTT[A/G]AGGTCAGGAGTTTGA | 4867 |
rs781564433 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144176 | GCATATTACTGTTTC[A/G]AATGTCTGCATCCTT | 4867 |
rs781601606 | snp | C/T | 0.000290546 | 0.0120494 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178351 | TACTGCTATATGTCT[C/T]TGAGTTAAACATTAA | 4867 |
rs781613285 | in-del | -/GA | | | intron-variant, frameshift-variant | NPHP1 | GRCh38.p7 | 2:110125319 | GGTGATACAGGCTTT[-/GA]GAGCTAGAGAAGTTT | 4867 |
rs781655707 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110195554 | TGGGTAGGAAGTATC[A/G]ATATCGTGAAAATGA | 4867 |
rs781708795 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181285 | TGCTCTACCAAAAAG[C/T]AGCCAGACTGCTTCT | 4867 |
rs781710549 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191075 | AACTCCAGTCTACAG[C/T]TCCCAGAGTGAGTGA | 4867 |
rs781727524 | snp | C/G | 1.67142e-05 | 0.00289081 | missense | NPHP1 | GRCh38.p7 | 2:110204902 | AGCCTGACCATACCT[C/G]TTGCTTCAGCTCCTG | 4867 |
rs781765193 | snp | A/G | 9.91097e-05 | 0.00703882 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165179 | CCATTGAAATGTGAA[A/G]TGCTTTTTAACTAAT | 4867 |
rs781768347 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110126749 | TATTCAGTTGGTGCA[A/G]AAGTAATTGTGGTTT | 4867 |
rs794726975 | snp | A/G | | | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110161645 | GCTCATGCCTTCACA[A/G]CTGGCCTTCAGAGAT | 4867 |
rs794727018 | snp | C/T | | | missense | NPHP1 | GRCh38.p7 | 2:110160224 | GTCGTATTTCATTGA[C/T]TCTGACATTATGGAG | 4867 |
rs796100873 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173192 | CTATCTCTTGACCTC[A/G]TGATTCGCCCGCCTC | 4867 |
rs796167518 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173354 | AATTTGGTGACAATT[A/G]CTTTATGGTCCAATA | 4867 |
rs796167576 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156780 | TGTGTTTTGGTTTCT[G/T]TTTTTTTTTTTTTTT | 4867 |
rs796176627 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110178094 | AACAATGCAAGTAGA[C/T]ATTCCAAATCATTTC | 4867 |
rs796214485 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150904 | AGCACAGTGGCTCAC[A/G]ACTGTAATCCCAGCA | 4867 |
rs796306659 | in-del | -/ACAC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139205 | ATTTATAGCAAATTT[-/ACAC]ACACACACACACACA | 4867 |
rs796328333 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184662 | CTGCATAAGGAGGGC[G/T]ATGATTTCCACTCAT | 4867 |
rs796346193 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171678 | CGAAAATAATGTGAA[C/G]TTGATAACGGTTTTT | 4867 |
rs796353823 | in-del | -/AC | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139205 | ATTTATAGCAAATTT[-/AC]ACACACACACACACA | 4867 |
rs796373629 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185495 | CTCCGTTTACTACCA[C/T]GGGGAGACAGAGGGA | 4867 |
rs796394651 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110188071 | ATCATACTGAATGGG[A/C]AAATGCTTGAAGCAT | 4867 |
rs796436644 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140292 | CGGAAGTCCTGAGGA[A/G]TATATTTTCACACTA | 4867 |
rs796450010 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185061 | CACCTCAGGAGAGAC[G/T]GTATTCCACGTGGAT | 4867 |
rs796471046 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110171473 | ATATTAGCTGAACTT[C/T]GTTTAAAATAATGGT | 4867 |
rs796478663 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172709 | GGATCACTAGAGCCT[A/G]GGAGGTGGACGTTGC | 4867 |
rs796536678 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110150814 | TCGGCCTCCCAAAGT[-/G]GCTGGGATTACAGGT | 4867 |
rs796564964 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154682 | GGTGGCATTTTGCCC[C/T]TGCCCTAGAGATTTG | 4867 |
rs796573487 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138746 | ACTCAGGGCTCATGA[G/T]GAAGAACAGCCAAGG | 4867 |
rs796636286 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110196698 | TGCTATAAAGACCCA[G/T]GCACACATATGTTTA | 4867 |
rs796650523 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153860 | TGGTAGTGAGCACCT[A/G]TAATCTCAGCTACTA | 4867 |
rs796663560 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203146 | TGGAGCTGGAGGCCA[C/T]TGTCCTAAGTGAATT | 4867 |
rs796674009 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184003 | GAAATTCATGAATGG[A/C]ACTAGCGGCAGACCC | 4867 |
rs796674462 | snp | C/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205602 | TGGGACTGCATCCCA[C/T]GAATCCAATTCCAAA | 4867 |
rs796703366 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156024 | TCAATTCTCACATGT[C/T]GTGGGAGGAAACCAG | 4867 |
rs796707325 | snp | C/T | | | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147849 | GGATTTCCTTGTCAA[C/T]AGACACATTTTTTAA | 4867 |
rs796718374 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110183601 | TAATTCCTCTAGCGC[C/T]GCTGGGTTAGGGTCT | 4867 |
rs796731925 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110154257 | GTGCCATTCACCTTC[C/T]GCCATGATTGTGAGG | 4867 |
rs796736840 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139674 | TAACTAGGCTTTCTG[C/T]CCTTGGCCTTGTCTC | 4867 |
rs796841579 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146342 | GTTTAAATCATTTAC[C/T]GTGGTTGCCACTGTG | 4867 |
rs796885749 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127012 | ACCTCACCAAGATCC[A/G]CTTCCTTTCTTCTGG | 4867 |
rs796924521 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110163814 | TACAGACATGCGCTA[A/C]CACGCCCAGCTAATT | 4867 |
rs796942827 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141969 | CAGAGCCAGACTCTG[-/T]CTCAAAAAAAAAAAA | 4867 |
rs796957996 | snp | G/T | | | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124541 | GCAATGCCTGGGATG[G/T]AGGTCGAGGGGTCCT | 4867 |
rs796989159 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144623 | GGGCATGTAGAAAAC[A/C]CTGGAGTCAGTAGTT | 4867 |
rs863224357 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110165044 | AAGCAAAGGTACAAA[-/A]GTGGGAAAGGATATC | 4867 |