SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs881302 | snp | A/G | 0.428333 | 0.175206 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184573 | TGCCCATCTATCAGG[A/G]CTTTGCCATGCCCCA | 4867 |
rs906815 | snp | C/T | 0.465578 | 0.126594 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184919 | CTGACTTCTGGATGG[C/T]GAACACCAGGACCTT | 4867 |
rs979376 | snp | A/T | 0.0301572 | 0.119034 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161731 | TTGGAGTTTCTTTCT[A/T]TGTAAGAAAATGAAG | 4867 |
rs1154652 | snp | C/T | 0.3742 | 0.216966 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177146 | ggttgatattcttga[C/T]atagggagacacatg | 4867 |
rs1183419 | snp | C/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135682 | GGTTTTTGAGATTTT[C/T]TATATGGTCCTTCCT | 4867 |
rs1184331 | snp | C/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135518 | ATCATGTGTGAGGGT[C/T]TTAAAGAACTCACtt | 4867 |
rs1396750 | snp | A/G | 0.498813 | 0.0243321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148519 | TTATAATGCAAAGGC[A/G]TAAACTATTTACTAA | 4867 |
rs1509416 | snp | A/T | 0.470618 | 0.117591 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148166 | GCCCTCATGACCCAA[A/T]CACCTCCCACCAGGC | 4867 |
rs1509417 | snp | C/T | 0.498754 | 0.0249289 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148087 | CATTTATTCAAACCA[C/T]ATCAAACCCCCTTCC | 4867 |
rs1509418 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144627 | ATTTAACTACTGACT[C/T]CAGTGTTTTCTACAT | 4867 |
rs1509419 | snp | C/T | 0.0460963 | 0.144649 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144616 | GACTCCAGTGTTTTC[C/T]ACATGCCCACAGCTT | 4867 |
rs1509422 | snp | A/G | 0.471768 | 0.115407 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128770 | GTGTTATGTTAAATC[A/G]TATGAAATCTCCAAT | 4867 |
rs1567366 | snp | C/T | 0.498852 | 0.0239341 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126152 | AATTTCTGTGAAGCC[C/T]TGTGGACAGATTAGA | 4867 |
rs1588327 | snp | A/C | 0.433236 | 0.170072 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133856 | acacaacataccaaa[A/C]tttacaagatacagt | 4867 |
rs1810096 | snp | C/G | 0.498754 | 0.0249289 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185239 | AACACTCTGACTCAA[C/G]AAAGCGAGTTTTAAA | 4867 |
rs1810097 | snp | A/G | 0.498852 | 0.0239341 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185117 | TTCTTGGAGACCCAC[A/G]TCTTCTTAAAGGTGT | 4867 |
rs1848682 | snp | A/G | 0.498813 | 0.0243321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148330 | CTCAGGAAGCTTCCA[A/G]TCATGGCAGAAGGTG | 4867 |
rs1912095 | snp | A/G | 0.0611083 | 0.163768 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181613 | ataggatttttgttg[A/G]gtttttattgttgat | 4867 |
rs1975362 | snp | A/G | 0.0603597 | 0.1629 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135333 | CCTGCCAACACGCCC[A/G]GCTAATTTTTTGTAT | 4867 |
rs2018711 | snp | C/T | 0.498852 | 0.0239341 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185079 | GCAAGGATAGAGCCC[C/T]CAATCCACGTGGAAT | 4867 |
rs2048243 | snp | C/T | 0.469839 | 0.119042 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125122 | tatagatggaaaatc[C/T]tcttggcttttcagg | 4867 |
rs2136402 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180545 | agaccacagctgctt[C/T]taattggccatcttg | 4867 |
rs2175119 | snp | C/T | 0.0611083 | 0.163768 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158482 | atctgaaatttaaca[C/T]acaagaaataaaaat | 4867 |
rs2175120 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135638 | ctaatactattttta[A/G]aaatatataaaCTCT | 4867 |
rs2202875 | snp | A/T | 0.465368 | 0.126951 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183031 | TTTGTCTTTTTTTTA[A/T]CTTTATTGGCTTAAA | 4867 |
rs2271242 | snp | A/C | 0.104149 | 0.203046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129561 | CCACAGCCATAAGGA[A/C]GAAAGAGAAGTTGAA | 4867 |
rs2271243 | snp | A/C | 0.0209421 | 0.100162 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164872 | AATTATTTTTAATAC[A/C]TTTAGCTCTACCTCG | 4867 |
rs2271244 | snp | A/G | 0.461542 | 0.133229 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161744 | ATGGATTTTTGATTT[A/G]GAGTTTCTTTCTTTG | 4867 |
rs2271245 | snp | C/T | 0.471004 | 0.116864 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178290 | ATCAGTCAACATTTA[C/T]TTATTGTGTATAATA | 4867 |
rs2864665 | snp | C/T | 0.478354 | 0.101757 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143318 | ATCTGTTATTTGAGC[C/T]ATCTAGTAAATAGAA | 4867 |
rs3086118 | in-del | -/CT | 0.477853 | 0.102875 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198799 | TAGCAGGAAGGACCC[-/CT]CTCTATCTAACAGTA | 4867 |
rs3086121 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180471 | CTCACATCTATAAGC[-/A]AAAAAAAAAAAAAAA | 4867 |
rs3197353 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184756 | TTACCTATCCATAAA[A/C]CCCCAAAAGGATGAG | 4867 |
rs3748031 | snp | G/T | 0.000117079 | 0.00765023 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124113 | TAGAGTTCACAGAAT[G/T]TAACACTTTAAAAAT | 4867 |
rs3752863 | snp | C/T | 0.477937 | 0.102688 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144685 | CTTTTCATTTACCAA[C/T]GAGGCATAAATGAAA | 4867 |
rs3789726 | snp | C/T | 0.131723 | 0.220251 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205149 | GAGGAAAAGTGACTC[C/T]CCCGGCTGTGACCTG | 4867 |
rs3789727 | snp | C/T | 0.357238 | 0.225832 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149747 | TCAGCATTGCATAGA[C/T]GTAGGGAGGACAAAG | 4867 |
rs3789732 | snp | G/T | 0.498832 | 0.0241331 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147642 | CTTTGCAGAAAGTGA[G/T]AAAAGATGCTCACTG | 4867 |
rs3789733 | snp | C/T | 0.499265 | 0.0191552 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128779 | AACTGTTGAGTGTTA[C/T]GTTAAATCGTATGAA | 4867 |
rs3789735 | snp | C/T | 0.47852 | 0.101384 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128565 | CCAAATTCTGTTTCA[C/T]TAGAGAGGTCCTGCA | 4867 |
rs3789736 | snp | C/G | 0.498369 | 0.0285077 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128471 | GTCTGCTCATGCTAA[C/G]CCTTCTACCTGCAAC | 4867 |
rs3817140 | snp | C/T | 0.473266 | 0.112482 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161464 | TTGAAAATAGCGATA[C/T]TTTTATAACTAAGGC | 4867 |
rs3838315 | in-del | -/ATCTGGTC | 0.499035 | 0.0219437 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129109 | TTAATGAGTTCTGTC[-/ATCTGGTC]NNNNNNNTAGGCCTT | 4867 |
rs4284881 | snp | A/G | 0.497641 | 0.0342639 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173909 | ttcctaaatgagtat[A/G]catttaataatatgg | 4867 |
rs4353695 | snp | G/T | 0.498908 | 0.0233371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143072 | GTAGTCAGCTCTGTA[G/T]CCCCAGCCTCAGGCA | 4867 |
rs4368380 | snp | G/T | 0.498908 | 0.0233371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143055 | CCCAGCCTCAGGCAG[G/T]CACACCTATTTTCTT | 4867 |
rs4953755 | snp | C/G | 0.479744 | 0.0985793 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155909 | GAGAAGGCATGATAG[C/G]TTTGGAAATGTGAGG | 4867 |
rs4953841 | snp | A/G | 0.498813 | 0.0243321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137465 | tctacagtgaactca[A/G]acaaatttacaagaa | 4867 |
rs4953842 | snp | A/G | 0.0611083 | 0.163768 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170901 | GGTAGGGCAAGGCTT[A/G]AGGAAAATGAGTGAG | 4867 |
rs4953845 | snp | A/T | 0.473543 | 0.111932 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188612 | atagattcaatgcta[A/T]tcccatcaaacttcc | 4867 |
rs5833367 | in-del | -/CAGATGAC | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129112 | AAAAAAGGCCTAGAC[-/CAGATGAC]AGAACTCATTAACAC | 4867 |
rs5833368 | in-del | -/A | 0.436408 | 0.16659 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179149 | AAAAAAAAAAAAAAA[-/A]TCCTGAAGGGATTGT | 4867 |
rs6707554 | snp | A/G | 0.496416 | 0.0421803 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192047 | GTAGATAAAACCACA[A/G]AGATGGGGAAAAAAC | 4867 |
rs6707877 | snp | C/T | 0.473543 | 0.111932 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187024 | ATGCAGCTAAAGCAG[C/T]GTTCAGAGGAAAATT | 4867 |
rs6711385 | snp | C/T | 0.239037 | 0.24976 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190364 | GCGGGCTGAAGGTCC[C/T]GAGCCCTGCCCCGCG | 4867 |
rs6714985 | snp | A/G | 0.261884 | 0.249717 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199223 | GGATCACCTGAAGTC[A/G]GGAGTTTGAGAGCAG | 4867 |
rs6717760 | snp | A/C | 0.468148 | 0.122112 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190861 | AAAATAAGCAAATTT[A/C]TAAGAAAAAAAAACC | 4867 |
rs6720546 | snp | C/T | 0.114738 | 0.210248 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190285 | CTGTGGAGCAGGGGG[C/T]GGCACTTGTCAGGGA | 4867 |
rs6728583 | snp | C/T | 0.498871 | 0.0237351 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192194 | GAAGAAGGCTTCAGA[C/T]GATCAAACTTCTCCG | 4867 |
rs6738643 | snp | C/T | 0.131038 | 0.219882 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172386 | ttatttttattattt[C/T]tttcctgctctcctt | 4867 |
rs6744318 | snp | A/T | 0.114387 | 0.210022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171886 | cttctagtgttcttg[A/T]catgttttgatatca | 4867 |
rs6747701 | snp | C/T | 0.497749 | 0.0334707 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172387 | tatttttattatttc[C/T]ttcctgctctccttg | 4867 |
rs6758737 | snp | A/G | 0.473543 | 0.111932 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186853 | ATTTAAAAAAAAGAA[A/G]GAAAGAAAGAAAGAA | 4867 |
rs7421614 | snp | C/T | 0.472989 | 0.113031 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166791 | CATAATCGATAGTGA[C/T]TATAGGTTGGAAACA | 4867 |
rs7424255 | snp | A/G | 0.0988009 | 0.199095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156926 | ggactacaggcacac[A/G]ccaccacgtccagct | 4867 |
rs7572483 | snp | C/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198066 | TGAAAAGGTAACAAA[C/G]TCTGAACACTGCAAA | 4867 |
rs7585308 | snp | A/G | 0.114738 | 0.210248 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200083 | gcacggtgaaacccc[A/G]tctctactaaaaata | 4867 |
rs7588215 | snp | C/T | 0.00716266 | 0.059414 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205734 | AGCCACAGGCCAGGA[C/T]GAACCATTATTTATG | 4867 |
rs7599788 | snp | C/T | 0.498832 | 0.0241331 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148838 | TGAATTTTCATTTAT[C/T]TTCTCTTTTGCTCAT | 4867 |
rs7601550 | snp | A/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134307 | tcacaaagaaataga[A/G]aatctcaataacaag | 4867 |
rs7601685 | snp | C/T | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133896 | cctaagagggaaatt[C/T]atagctataaatact | 4867 |
rs7608206 | snp | C/T | 0.046775 | 0.145601 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140890 | ACTATAATTATAAAA[C/T]AAATTTCAGTAGTAG | 4867 |
rs9326627 | snp | C/G | 0.239614 | 0.249784 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200548 | agcctgggtgacaga[C/G]tgagatttagtctca | 4867 |
rs9750361 | snp | C/G | 0.498964 | 0.02274 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194139 | aaaagctagcagaag[C/G]caagaaataactaag | 4867 |
rs9807986 | snp | C/T | 0.132066 | 0.220435 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195488 | aactacaaaccactg[C/T]tcaatgaaataaaag | 4867 |
rs10167781 | snp | G/T | 0.465788 | 0.126237 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187562 | actcccaggaccaga[G/T]gaattcacagctgaa | 4867 |
rs10168108 | snp | C/T | 0.498832 | 0.0241331 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187872 | tcaacatatacaaat[C/T]aataaatgtgattca | 4867 |
rs10168630 | snp | A/G | 0.499 | 0.0223418 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152934 | AAATCCCCAAATTTG[A/G]CAAAAGACATAAACC | 4867 |
rs10174448 | snp | A/C | 0.104859 | 0.203554 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160050 | TGGGAATTGGGGAGG[A/C]GTTGAATGGAAAAGA | 4867 |
rs10177822 | snp | A/T | 0.105214 | 0.203807 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126130 | TACAATTTTGTGAGT[A/T]AATATTTCTAATCTG | 4867 |
rs10177824 | snp | A/G | 0.105214 | 0.203807 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126132 | CAATTTTGTGAGTAA[A/G]TATTTCTAATCTGTC | 4867 |
rs10179522 | snp | A/C/G | 0.49925 | 0.0193545 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136202 | CTATCTATGACAAAC[A/C/G]CACAGCCAATATCAT | 4867 |
rs10186834 | snp | C/G | 0.00914312 | 0.0669923 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138736 | GCATGCCCAAACTCA[C/G]GGCTCATGATGAAGA | 4867 |
rs10196865 | snp | C/T | 0.121022 | 0.21416 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133477 | tcaatatcctacttt[C/T]gataaggtatagaac | 4867 |
rs10199183 | snp | C/G | 0.0126979 | 0.078662 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152519 | AGCATGGGGTAGCAA[C/G]GGGCTGGATTTGTAT | 4867 |
rs10202266 | snp | A/G | 0.256619 | 0.249912 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183422 | atccctttatttccc[A/G]taaggaatactttta | 4867 |
rs10205807 | snp | C/G | 0.152667 | 0.230274 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184619 | TGACATCGCAAGCTG[C/G]AACATCTCTCGCTTC | 4867 |
rs10496435 | snp | A/G | 0.315516 | 0.241263 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171596 | ATTGATTTTCAACGC[A/G]TCTCTTTCCTTCTTT | 4867 |
rs11240790 | snp | C/T | 0.478271 | 0.101943 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131531 | GGATCTGAAGATGTC[C/T]CATAAGTAATGTATT | 4867 |
rs11240791 | snp | A/G | 0.477937 | 0.102688 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182071 | tgaattaagacaggc[A/G]gacaagaatagggaa | 4867 |
rs11240793 | snp | A/C | 0.0614824 | 0.164198 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193818 | ctgtctctcagacca[A/C]agtgcaatcaaacta | 4867 |
rs11240794 | snp | C/G | 0.4711 | 0.116682 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202321 | CCATTAGTTTCTTCT[C/G]TACTCTTGCAATTTG | 4867 |
rs11453404 | in-del | -/A/AA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110168406 | TAAAAGCGAAAAAAA[-/A/AA]AAAAAGTCTTAGAAA | 4867 |
rs11546973 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110184174 | TTCCAAACTATGTGG[A/G]CCGACCCAAGCACGT | 4867 |
rs11675767 | snp | C/T | 0.470866 | 0.117126 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110165126 | GCCCTCTTCACTTGA[C/T]TCTTGGCCTTCTTCT | 4867 |
rs11676044 | snp | A/C | 0.479824 | 0.098392 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153780 | tgaggtcagtagttc[A/C]agactagcctggcca | 4867 |
rs11677886 | snp | C/T | 0.473266 | 0.112482 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191398 | agagggtcctacgcc[C/T]agagagcctcgctaa | 4867 |
rs11684657 | snp | C/T | 0.497613 | 0.0344622 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193547 | acttagactcccaca[C/T]aataataatgggaga | 4867 |
rs11688553 | snp | C/T | 0.4711 | 0.116682 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138685 | TGCTCATGTTCTGCC[C/T]TTTGGTCCACGGTCC | 4867 |
rs11695276 | snp | G/T | 0.498794 | 0.0245311 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196102 | ggcatgggcaaggac[G/T]tcatgtctaaaacac | 4867 |
rs11885213 | snp | A/T | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158617 | tcctttttttctctt[A/T]agctacctatagcat | 4867 |
rs11885636 | snp | A/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153596 | gtaagctatgcatgt[A/G]taaacttaataccta | 4867 |
rs11888587 | snp | C/T | 0.0955749 | 0.196603 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167144 | gtatttgttctttgt[C/T]actgattcctggcac | 4867 |
rs11888973 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135357 | tggcaggcgcctgta[A/G]tcccagctacttggg | 4867 |
rs11894410 | snp | A/C | 0.26326 | 0.249648 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206738 | AAAATAAACTAATAA[A/C]CCCCCCTAAATATGT | 4867 |
rs11895254 | snp | A/C | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135250 | AGATTTCAAAATAAT[A/C]ATCTGGAAACATGAA | 4867 |
rs11898910 | snp | C/T | 0.239326 | 0.249772 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179524 | AGACTATATCACTAA[C/T]GTAAACCCAGGAACT | 4867 |
rs11899289 | snp | G/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182742 | cacataaacaaatct[G/T]caaaataaccagcta | 4867 |
rs11900291 | snp | A/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158561 | ctcttttatcactat[A/G]tagtgccTGAAGTCT | 4867 |
rs11903833 | snp | A/C | 0.49925 | 0.0193545 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151312 | ATAAATTATATTTTT[A/C]TTGAAATTCAATCTC | 4867 |
rs12469947 | snp | A/G | 0.478603 | 0.101197 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198468 | GGGAAGATTAATGAT[A/G]CTGATTACGTTTAGA | 4867 |
rs12470295 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124879 | TGTATAAATTGTTTC[C/T]TAATTTTTAGGGTTT | 4867 |
rs12612074 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189740 | gtgcgtttacaatcc[C/T]tgagctagacacaaa | 4867 |
rs12614572 | snp | A/G | 0.465473 | 0.126772 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200124 | gccaggcatggtggc[A/G]ggcacctgtaatccc | 4867 |
rs12620593 | snp | A/G | 0.473266 | 0.112482 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182018 | agcagaatagacaag[A/G]cagaggaaagaatct | 4867 |
rs12986510 | snp | A/C | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187221 | accctacaaagaaca[A/C]attcaggagctggtt | 4867 |
rs12986555 | snp | A/G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187277 | tacaccactagctag[A/G/T]ctaataaagaaaaga | 4867 |
rs12999216 | snp | C/T | 0.473451 | 0.112115 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130231 | GACACACTGAAACCA[C/T]AGCAGACACTTTTGA | 4867 |
rs13003804 | snp | A/G | 0.0162398 | 0.0886349 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141330 | cacactgtaaatact[A/G]gctgttttatgtatt | 4867 |
rs13003985 | snp | C/T | 0.0209421 | 0.100162 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166776 | CCATGTTCTTTGCAA[C/T]ATAATCGATAGTGAT | 4867 |
rs13025474 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180808 | atgtttctcccacgg[A/G]tctctgcaacccaca | 4867 |
rs13031480 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110180762 | aaccaagagaagtgg[G/T]gagtgaccatgcaac | 4867 |
rs13034727 | snp | C/T | 0.0584853 | 0.160693 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193138 | atcataatgacagga[C/T]caaattcacacatga | 4867 |
rs13399520 | snp | G/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166903 | AGCCCTTTGGCCACA[G/T]GTAGCTAGTGAGCTC | 4867 |
rs13399850 | snp | C/T | 0.00199481 | 0.0315187 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123219 | GTGCTTTTGACAGAG[C/T]ACTTATTTTCTTGAT | 4867 |
rs13403558 | snp | A/C | 0.217851 | 0.247924 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128043 | ATCTAAAATTACAGG[A/C]GATCATATGTACCAT | 4867 |
rs13406250 | snp | A/C | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169073 | ataaaaataaaattc[A/C]tctttgaagacaaaa | 4867 |
rs13413536 | snp | C/T | 0.471004 | 0.116864 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132523 | agccaggtttggtgg[C/T]gggcacctgtaatcc | 4867 |
rs13413818 | snp | C/T | 0.477937 | 0.102688 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200814 | TTTGCCTTTAAGCAC[C/T]CTGAATGCCTGACTT | 4867 |
rs13414551 | snp | C/G/T | 0.00116037 | 0.0240594 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147907 | AGCCTTATCTTTCAA[C/G/T]GGACATACATTGCGA | 4867 |
rs13416417 | snp | A/T | 0.132066 | 0.220435 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176871 | TAGTCTCCCAGCAGG[A/T]ACTTTCTGCCAGGCC | 4867 |
rs13419391 | snp | G/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177235 | tatagtcatttatgg[G/T]gggaaggttagtcca | 4867 |
rs13419782 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182902 | cttcaagagatccac[A/G]tcatttgcaaagaca | 4867 |
rs13421489 | snp | G/T | 0.471196 | 0.1165 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132389 | GCTGGGCATGGTGGC[G/T]CACACCTGTAATCCT | 4867 |
rs13423556 | snp | A/G | 0.478271 | 0.101943 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149329 | CAGGAAAAACATTAA[A/G]AAATTCTACCCTAAA | 4867 |
rs13424486 | snp | C/T | 0.477768 | 0.103061 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156171 | ccacctcccaggtcc[C/T]ggttcaagcaattct | 4867 |
rs13429665 | snp | C/T | 0.477853 | 0.102875 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155679 | gattttggacttgca[C/T]ggggcctgtagcctc | 4867 |
rs17162343 | snp | C/T | 0.0279526 | 0.114869 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200851 | AACTTCTCCAAACAA[C/T]TACAATTCACTTAAA | 4867 |
rs17162349 | snp | G/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198528 | TATTTACAGAAAACC[G/T]GAGCCAGTTAGCTCC | 4867 |
rs17162360 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176690 | CTTTGTCTTTATTCC[C/T]AGATCATGGTTGTTA | 4867 |
rs17162370 | snp | C/G | 0.0248432 | 0.108648 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163289 | GCCCCAAATTCCTGA[C/G]AGGATGCCATCACAG | 4867 |
rs17463266 | snp | C/T | 0.0637235 | 0.166737 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200752 | AATCCCTTAATCAAT[C/T]CTACTATTATAAATT | 4867 |
rs17842059 | snp | C/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138361 | GTATCCTTGACCACT[C/G]TTTAAATCCTGAATT | 4867 |
rs17842060 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138460 | CATAAGGTCAGAAAC[C/T]GTCTTTTTTAAACTG | 4867 |
rs17842061 | snp | C/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139975 | AGTGATGTCCAAAAG[C/G]GCCCAGGCTGGTGCC | 4867 |
rs17842062 | snp | C/T | 0.478188 | 0.10213 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140590 | TACTTGAAATATACA[C/T]ATGGGAGTGCTTCCG | 4867 |
rs17842647 | snp | C/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129825 | AGAATATTGACATTT[C/G]ACAATAGATAACAGC | 4867 |
rs17842667 | snp | C/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204357 | TATGTTTATGAGTTA[C/G]TTGTATTTCCTCTCT | 4867 |
rs17842669 | snp | C/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186294 | CCCTAAACAAGGAAG[C/G]GGTGTTGGAGAGCCA | 4867 |
rs17842671 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184056 | AGAGATTCCTCTGCC[A/G]TGGAGTCTTACGATA | 4867 |
rs17842672 | snp | A/C | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178335 | CATTTGTTTATATCT[A/C]TACTGCTATATGTCT | 4867 |
rs17842673 | snp | A/C/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178132 | CACATCAACATTGAC[A/C/G]TTAAATATATCATCT | 4867 |
rs17842674 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171481 | TGAACTTTGTTTAAA[A/G]TAATGGTAGGACACT | 4867 |
rs17842675 | snp | A/G | 0.467642 | 0.123012 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165484 | TAAAAAAGAAAAGAC[A/G]TAAAGATAAAAATAA | 4867 |
rs17842677 | snp | G/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161982 | TCATTCAAATATTTT[G/T]GTAAAATGCAGAAAT | 4867 |
rs17842678 | snp | C/T | 0.472896 | 0.113214 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160594 | CAGAATGTGGGTAAG[C/T]GCAGAAGGCTAACGC | 4867 |
rs17842679 | snp | C/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160492 | ATACTTAAAAGCTGT[C/G]ATGAAAGGAACAATA | 4867 |
rs17842680 | snp | A/G | 0.0905309 | 0.192535 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149353 | CCCTAAACTCTTCAC[A/G]TACACAGAGACGCAA | 4867 |
rs17842682 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147746 | TTATTTTAAATGCTA[C/T]GAAAACAAATCAGCA | 4867 |
rs17842683 | snp | A/G | 0.0260105 | 0.111035 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147717 | ACTCAAGCTATAAAT[A/G]TGAATAAGTACTATT | 4867 |
rs17842684 | snp | A/G | 0.0333695 | 0.124785 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147581 | GTTACAAGGCTAAGT[A/G]TACTCTGCCCCTGGA | 4867 |
rs17842685 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146623 | TGCCTAAACAACACT[A/G]AAGTCAACATAAAAA | 4867 |
rs17842686 | snp | A/T | 0.0271295 | 0.113264 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143504 | TCCAAGTGCTGAATG[A/T]TCCCAAATTCACTGG | 4867 |
rs33958626 | snp | A/C | 0.057506 | 0.159518 | NPHP1 | 2 | allele_origin=A(germline)/C(germline) | 2:110201449 | AAAGAAGCTCTAGAA[A/C]CCAATAAAAGACAAC | 4867 |
rs34009407 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110167342 | TGGAGGGTGGGGCTG[-/A]AAAGTTCTAACCTCT | 4867 |
rs34101430 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110130573 | AGGGACTTATCACCT[-/G]GGATAGATAGGTAGA | 4867 |
rs34226923 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185797 | TGGTGTGGTCCTGTT[-/C]CCCTGGTGAACATGA | 4867 |
rs34229469 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143261 | GCATGATTCTACCCT[-/G]CAGGGAACTTTTTTA | 4867 |
rs34299122 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161934 | GCATATTATTGGCCT[-/A]AAAGTCTTTCTTAAA | 4867 |
rs34316667 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138143 | TATGATGTTCCCCTT[-/C]CCTGTGTCCGTGTGT | 4867 |
rs34359998 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110135501 | TAAAGAACTCACTTT[C/T]TTTTTTTTTTTTTTT | 4867 |
rs34391178 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172387 | CAAGGAGAGCAGGAA[-/A]GAAATAATAAAAATA | 4867 |
rs34394425 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155167 | AGCTGCCAAGAGTTT[-/G]GGGCTTGCACCCTCT | 4867 |
rs34400005 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151369 | TGTTTCATTGTTTTA[G/T]GTAAGTTTTATGATG | 4867 |
rs34429765 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162713 | AGCACACCTAATTCT[-/C]CCCCACCTTAAAGGA | 4867 |
rs34458851 | in-del | -/G | 0.499 | 0.0223418 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133779 | TTCTTTGAGCCATTG[-/G]TTGTTTAAGTATGTT | 4867 |
rs34538574 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179388 | CTCACCTGCTATTAA[-/G]GGATTCAGACAATCC | 4867 |
rs34587859 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110124761 | TACAGCAGCCTTGGG[-/C]CCTGTAGACATTGCC | 4867 |
rs34754448 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110197483 | CACCCTGCCTGCAGT[-/G]GGAGGCTGAGAACAT | 4867 |
rs34868852 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204324 | AGGAATGTTAACTTC[-/A]AAAGATACTCAAGTA | 4867 |
rs34941710 | snp | A/C | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155828 | GTCCCAACATCTCAT[A/C]TAAGATAAGGCAAGT | 4867 |
rs34987520 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110176485 | AAATGCAAAAAAGCA[-/G]GGGGAAAATACATGA | 4867 |
rs35010593 | in-del | -/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153996 | TGTGTCACTTGAGCA[-/T]TTTTTTTTTTTTTGA | 4867 |
rs35055335 | in-del | -/A/AA | 0.440609 | 0.161766 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156073 | AAAAAAAAAAAAAAG[-/A/AA]GAAAGACCTGCCTCC | 4867 |
rs35058985 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203012 | GCATCTATGTTGATT[-/C]CCATGTCTTTGCTAT | 4867 |
rs35090087 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129717 | TCCAGACACAAGTTT[-/G]GGGTCCTTCCCTGAG | 4867 |
rs35101518 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127661 | TCTGGGTGCACCCAG[-/A]AATGTGCCACGGGCT | 4867 |
rs35176117 | in-del | -/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158928 | AGAGTCCTCAAATTG[-/G]CAAAATGCAACAAGA | 4867 |
rs35182631 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110172385 | AGGAGAGCAGGAAAG[-/A]AAATAATAAAAATAA | 4867 |
rs35242874 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140023 | GTCAGGGGGCGGGGT[-/G]GGGGCTGTGCTGTGG | 4867 |
rs35262692 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110157701 | GAGATGTGGATAGAG[-/C]ATATCTGGGAGTAAA | 4867 |
rs35292868 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110153709 | CAGTTGTGAGCTACC[-/G]GCACCCGCCCCACTT | 4867 |
rs35317702 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181047 | GAAGTGGGGGCCATG[A/G]AAGTGGGGCCCACGG | 4867 |
rs35355264 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200203 | CAGTGGCATGATCTC[-/G]GGCTCACTGCAAGCT | 4867 |
rs35367711 | snp | A/T | | | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123940 | ACTGAGACTGCACGG[A/T]GGAAAGTTATCACTG | 4867 |
rs35378439 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110181062 | TTGTGAGTTGCCATG[A/G]AAGTGGGGGCCATGG | 4867 |
rs35520058 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144673 | CAACGAGGCATAAAT[-/G]GAAATGTCTGAGTAT | 4867 |
rs35567341 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138193 | ATCTCCTAATGCTAT[-/C]CCCTCCCCCACCCCA | 4867 |
rs35620412 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162174 | TTTGTATTTCTAGAA[-/A]CCTGGTGTAGCATCT | 4867 |
rs35622734 | in-del | -/T | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206596 | TGAGAATTTCATAAG[-/T]TAATAGCTGTATTTT | 4867 |
rs35627203 | in-del | -/GTGT | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139204 | TGTGTGTGTGTGTGT[-/GTGT]AAATTTGCTATAAAT | 4867 |
rs35638834 | snp | A/G | 0.0253123 | 0.109615 | missense | NPHP1 | GRCh38.p7 | 2:110143551 | ACAGAAGATCAAGAA[A/G]TGTACTAAGGTGGGT | 4867 |
rs35656121 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110144386 | TTTACTTGAATTCAC[-/A]ACTTTTAAAAATATG | 4867 |
rs35661266 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138831 | CCTGCCAGGCAAAGC[-/T]AGGCAGGTCTACGAG | 4867 |
rs35810959 | snp | G/T | 0.0252325 | 0.109451 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201348 | AGTATTTAAGGCATA[G/T]AGATTGGTCCTTTGG | 4867 |
rs35836381 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177512 | CTCCAATGAGCATTT[-/C]CTTGGAGTGTTATTT | 4867 |
rs35859447 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110189122 | TTGCTTTTGTTGCAA[-/T]TGCTTTTGGCTTTTT | 4867 |
rs35894521 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110151168 | TTTTTTTTTTTTTTT[-/T]CTTGAGACTGAATCT | 4867 |
rs35932880 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110148107 | AACATGAAATTTGGT[-/G]GGGGACATTTATTCA | 4867 |
rs35953129 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200182 | CTGCAAGCTCCACCT[-/C]CCCAGGTTCAAGCGA | 4867 |
rs36086413 | snp | C/T | 0.482757 | 0.0912364 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202125 | GATACCACTCAGTAA[C/T]GAGAAGGAATGAACT | 4867 |
rs36106814 | in-del | -/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173227 | GCATGTGGCCAGGTG[-/C]CGGTGGCTCACGCCT | 4867 |
rs36119753 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110128890 | TAAGAGCAAAAATCC[-/A]AAAATGGTCTGTAAG | 4867 |
rs36125105 | in-del | -/TT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152617 | GAAGCAGGGGCAACC[-/TT]TTTTTTTTTTTTTTT | 4867 |
rs41295841 | snp | A/G | 1.64792e-05 | 0.00287042 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125689 | CACGAACTCTAAAGA[A/G]CAAACAGAAATATTA | 4867 |
rs55635345 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141973 | AAAAAAAAAAAAAAA[-/A]GAAAGAAAAAGAAAA | 4867 |
rs55800070 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110127121 | TGGCCCAGGCCCCTT[-/T]GAAGCAAAGGCAGTG | 4867 |
rs55911798 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155124 | AGCTGTGACTAAAAG[A/G]GGCCAAGATAAGCTC | 4867 |
rs55923269 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182038 | GGAAAGAATCTCAGA[A/G]CTTGAAGATTATGTT | 4867 |
rs55945311 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179164 | GAAAAAAAAAAAAAA[-/A]TCCTGAAGGGATTGT | 4867 |
rs55973503 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110143046 | CTGCTGAGAAAGAAA[-/A]TAGGTGTGCCTGCCT | 4867 |
rs55984257 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190517 | AGCCCACGCCCACCC[A/G]GAACTCACGCTGGCC | 4867 |
rs56166465 | snp | C/T | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173534 | ATACATATAATACCA[C/T]ATTTTTACTGTACAT | 4867 |
rs56228403 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142217 | AAACACATTGTAGTA[C/T]ATCTATCAAAGGGAA | 4867 |
rs56249781 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182067 | TTTCTGAATTAAGAC[A/G]GGCGGACAAGAATAG | 4867 |
rs56329304 | snp | A/T | 0.0919752 | 0.193722 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203091 | AAAAAATATGCAACC[A/T]TAAAAAAGAATGAAA | 4867 |
rs56746186 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198575 | TCTCCCTCCTTACCA[A/G]GGGATTCTTCCCTAA | 4867 |
rs57187721 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191370 | CCAGGAGATTACATC[A/G]CGCACATGGCTCAGA | 4867 |
rs57345619 | snp | C/T | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154990 | CAGAGGTCTTCACAG[C/T]AGCCCCTCCCATCAC | 4867 |
rs57358183 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139646 | GGGTAAAAATGGGCA[C/T]TAATGCAAACTCTAA | 4867 |
rs57912565 | snp | G/T | 0.474 | 0.111014 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139985 | AAAAGGGCCCAGGCT[G/T]GTGCCTAGTCTCTTA | 4867 |
rs57951925 | snp | G/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180459 | GAGTCTTTTTTTTTT[G/T]TTTTTTTTTTTTGCT | 4867 |
rs58549513 | in-del | -/CC | | | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206743 | AAACTAATAACCCCC[-/CC]TAAATATGTGTGAAT | 4867 |
rs58635772 | in-del | -/T | 0.499154 | 0.0205497 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160461 | GTTACATTTGAAATA[-/T]TTGCATTTTTCTTAA | 4867 |
rs58669943 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152490 | GAGGTTTCCTGGGCT[C/T]TGAGTCCAGAAGGAG | 4867 |
rs58690581 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129646 | AGAAACTAGGAAGCA[C/T]TGGGGGGAAAGGAGA | 4867 |
rs58697073 | in-del | -/CA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141979 | TCTGTCTCAAAAAAA[-/CA]AAAAAAAAAAGAAAG | 4867 |
rs59174376 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186298 | AAACAAGGAAGGGGT[A/G]TTGGAGAGCCAGTGT | 4867 |
rs59274043 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131134 | TTGCAGGTTCAATCA[C/T]GTATGGTGACTCATT | 4867 |
rs59275167 | in-del | -/A | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199418 | TCCATCTTAAAAAAA[-/A]AAAAAACCAATATGA | 4867 |
rs59532714 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156795 | GTTTTTTTTTTTTTT[-/T]GAGACAGAGTTTCTC | 4867 |
rs59551307 | in-del | -/GAAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110186869 | AAAGAAAGAAAGAAA[-/GAAA]TCCAGTCAAAATCAC | 4867 |
rs59965855 | snp | A/G | 0.498908 | 0.0233371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142502 | GGACTACAGGTGTGC[A/G]TCACCATACCCAGCT | 4867 |
rs60122255 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158927 | TTCTTGTTGCATTTT[C/G]CAATTTGAGGACTCT | 4867 |
rs60185770 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110170278 | GGATTCATCCATTCA[A/G]AAAATGCTGTTGAAG | 4867 |
rs60498269 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191578 | TAGAGTCCACCTCTG[A/G]GGACAGGGCATAGCC | 4867 |
rs60598809 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196838 | CATAAAAAATGATGA[A/G]TTCATGTCCTTTGAA | 4867 |
rs60717116 | snp | A/G | 0.0146672 | 0.084371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140104 | GTTTCTGTGCGAGCC[A/G]GCCTGGAGTTGCACC | 4867 |
rs60724853 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177758 | ATTTTTTTTTTTTTT[-/T]AATAGAGACAGTGTC | 4867 |
rs60907173 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110169630 | AGAAGAGGTAACTTT[-/T]AGTAACACAATCTCA | 4867 |
rs61312476 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110155273 | GGATGTATGATATGT[C/T]TGAATGTCCAGTCAT | 4867 |
rs61564798 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156760 | TTTGGTTTTGTGTGT[A/G]TGTATGTGTTTTGGT | 4867 |
rs62160545 | snp | A/G | 0.49925 | 0.0193545 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135346 | GCTGGGCGTGTTGGC[A/G]GGCGCCTGTAGTCCC | 4867 |
rs62160546 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110142533 | AATTTTTTTTTTTTG[G/T]TAGAGATGGGGTCTT | 4867 |
rs62160547 | snp | C/T | 0.499203 | 0.0199521 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150839 | ACAGGTGTGAGCCAT[C/T]GCACCCAGCAAAAAA | 4867 |
rs62160548 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110162831 | TTTTGAAAAAAAGAA[A/G]GGGGCTGGAACCCGG | 4867 |
rs62160549 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110177760 | TTTTTTTTTTTTTTA[A/T]TAGAGACAGTGTCTC | 4867 |
rs62787160 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152290 | GAAACCTTGGCTCTA[A/T]TTTTTTTTTTCTAAG | 4867 |
rs66696927 | in-del | -/A | 0.375 | 0.216506 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135504 | AAAAAAAAAAAAAAA[-/A]GTGAGTTCTTTAAGA | 4867 |
rs67219739 | in-del | -/CTCT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110175810 | TGTGCTTCATTCTCT[-/CTCT]TATTCTGAGACTTCA | 4867 |
rs71383863 | in-del | -/ACA | 0.0209421 | 0.100162 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136109 | CAGAAAAGGCCTTTG[-/ACA]AAAATTCAACATCCC | 4867 |
rs71425270 | snp | A/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132686 | ACAAATGAAATAAGT[A/T]TGGAGTGCTTAATGT | 4867 |
rs71425271 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150700 | GATTACAGGTCCCTG[C/T]CACCACGCCCAGCTA | 4867 |
rs71425272 | snp | C/T | 0.0252325 | 0.109451 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154211 | TTTTCCCTGCACAAG[C/T]GCTCTTCTCTTGTCT | 4867 |
rs72826888 | snp | C/T | 0.467845 | 0.122652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127050 | AGAAGACTATACCTC[C/T]TTTGAAGTTAAATGG | 4867 |
rs72826897 | snp | A/G | 0.0267878 | 0.112589 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168881 | TCAATTACTGCGTAA[A/G]ATATTTTTGAATGTT | 4867 |
rs72826898 | snp | C/G | 0.470811 | 0.117228 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172717 | AGAGCCTGGGAGGTG[C/G]ACGTTGCAGTGAGCC | 4867 |
rs72828803 | snp | G/T | 0.468148 | 0.122112 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175098 | GGCTCACAGGAGTCT[G/T]AAGTCTGCATTTCCC | 4867 |
rs72942106 | snp | A/C | 0.0275645 | 0.114116 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176066 | TATTAGTTCCCATTT[A/C]TCTGCTTAAGATTTC | 4867 |
rs73954612 | snp | A/G | 0.095934 | 0.196885 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122968 | CTGGCCTGTTTCTTC[A/G]GCGGTAATAAAAAAC | 4867 |
rs73954613 | snp | C/T | 0.0955749 | 0.196603 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123067 | TAGGTGCTCAATTAA[C/T]GCAGGCTGCTACTGT | 4867 |
rs73954614 | snp | A/T | 0.0205511 | 0.0992634 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127930 | GAAGAATCAGTGTAT[A/T]TATGTTCTGTGTAAT | 4867 |
rs73954615 | snp | C/T | 0.0955749 | 0.196603 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131048 | ACTGATTTATTGAAC[C/T]GAAAGAAGAGCCAAT | 4867 |
rs73954616 | snp | C/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138718 | TTGCACAGTGTTTCA[C/G]CTGCATGCCCAAACT | 4867 |
rs73954617 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139811 | GGATAGAGGCGGGGC[A/G]TGCCTTTGAAGGAGA | 4867 |
rs73954618 | snp | C/T | 0.0955749 | 0.196603 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140038 | CACCCCGCCCCCTGA[C/T]TACAGCCCCCAGCCC | 4867 |
rs73954619 | snp | C/T | 0.0596104 | 0.162024 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141345 | GGCTGTTTTATGTAT[C/T]TTCTTTCCATTAAAC | 4867 |
rs73954620 | snp | G/T | 0.0482946 | 0.147699 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147676 | CATCCTTTTTGAATT[G/T]TTATTCTTTAAAAGC | 4867 |
rs73954621 | snp | C/G/T | 0.0482946 | 0.147699 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152165 | AACTGCATTAAAAAC[C/G/T]CAAGAGGGGCTGGGT | 4867 |
rs73954622 | snp | A/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152816 | TTGGGAGAGGAGGGT[A/G]ATGTACTGTTAATAA | 4867 |
rs73954623 | snp | C/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152899 | GTTGCAAAGGTATTT[C/G]AGAAAATAATGGCTG | 4867 |
rs73954624 | snp | A/G | 0.0248432 | 0.108648 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153369 | CATCAGGAAGAAAGA[A/G]TAAACAATGGAAATA | 4867 |
rs73954625 | snp | G/T | 0.0248432 | 0.108648 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157345 | ACCAATTCAGCTCTT[G/T]GTCACTGAGGACACC | 4867 |
rs73954626 | snp | A/T | 0.0248432 | 0.108648 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157349 | ATTCAGCTCTTGGTC[A/T]CTGAGGACACCTACT | 4867 |
rs73954627 | snp | C/T | 0.105924 | 0.204309 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157748 | CTCTCTAAGTTATCA[C/T]CACCACCTCTCATCC | 4867 |
rs73954628 | snp | A/G | 0.0199957 | 0.0979694 | NPHP1 | 2 | allele_origin=G(germline)/A(germline) | 2:110164649 | CAGAACTATTAGGTA[A/G]CAAAACGAGACATGA | 4867 |
rs73954629 | snp | C/T | 0.0248432 | 0.108648 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167182 | CTGAAACCCTTGGAA[C/T]TTCCTGAATGATAGG | 4867 |
rs73954630 | snp | A/G | 0.0425829 | 0.139564 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170892 | CTCATGAATGGTAGG[A/G]CAAGGCTTAAGGAAA | 4867 |
rs73954632 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184011 | TGAATGGCACTAGCG[C/G]CAGACCCAACTGGTA | 4867 |
rs73954633 | snp | A/G | 0.132066 | 0.220435 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184068 | GCCGTGGAGTCTTAC[A/G]ATACAATCACCAACC | 4867 |
rs73954634 | snp | C/T | 0.0948562 | 0.196037 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206879 | AGTATTCATTACTTG[C/T]GATTCCTAGATCAGC | 4867 |
rs74472344 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198830 | AGAAAAGCCCATGAG[A/G]GCTCTCTGGAATAAT | 4867 |
rs74744530 | in-del | -/T | 0.0182019 | 0.0936463 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159903 | TTTAAATCTTTTATC[-/T]TTTTTTTAATATACA | 4867 |
rs74878641 | snp | A/G | 0.0260105 | 0.111035 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144977 | TTTTAAAATATAAAA[A/G]TAACGTGTAGATTAT | 4867 |
rs74879953 | snp | C/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172835 | CTATGCTGGTTGCAA[C/T]CCAGTCATTTTATTA | 4867 |
rs74882894 | snp | G/T | 0.104859 | 0.203554 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150464 | TGGACTCCTATGCTA[G/T]TAATAAATTATATTA | 4867 |
rs74944459 | snp | C/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159271 | TTGTCATATTCTGGG[C/G]TCATGTTTTTTCTGG | 4867 |
rs75244808 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110166782 | TCTTTGCAACATAAT[C/T]GATAGTGATTATAGG | 4867 |
rs75545874 | snp | A/G | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199984 | TATTAGGGGCCGGGC[A/G]CGGTGGCTCACGCCT | 4867 |
rs75567547 | snp | C/T | 0.0103295 | 0.0711199 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174698 | ATTTGAGTTGTCTGG[C/T]GTACACATTCCCAAC | 4867 |
rs75580647 | snp | C/T | 0.0252325 | 0.109451 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153709 | CAAGTGGGGCGGGTG[C/T]GGTAGCTCACAACTG | 4867 |
rs75593525 | snp | A/G | 0.469937 | 0.118861 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136418 | TGATTGTATATCTAG[A/G]AAACCCCATTGTCTC | 4867 |
rs75663443 | snp | A/T | 0.0228947 | 0.104514 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138892 | CCTTCTGGCACTTTC[A/T]CACAACATGAAGCAA | 4867 |
rs75730390 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139413 | GGTGAAACTGAAGCA[C/T]CTATTTGCTCTCTTT | 4867 |
rs75894757 | snp | C/T | 0.0170251 | 0.090679 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201968 | CCTCCACAGACAAAC[C/T]TGTTTTGATATTTTT | 4867 |
rs76249404 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198033 | TCCTGAAACCCCACA[A/G]AAAATGATTAAAACG | 4867 |
rs76265209 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179702 | AAATTAAGAAAAAAA[A/G]GAAAATATATTGATT | 4867 |
rs76413811 | snp | C/T | 0.152667 | 0.230274 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182161 | AAACCCGTGACTTAT[C/T]GGGGTACCTAAAAAA | 4867 |
rs76478851 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131482 | ATGTTTGAAAGAACT[A/G]AATATGTGTCGAGTT | 4867 |
rs76602395 | snp | A/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152617 | AAAAAAAAAAAAAAA[A/G]GGTTGCCCCTGCTTC | 4867 |
rs76678749 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149230 | AAAGTTTCCACGTGC[C/T]TAGGAAAAAATGCTT | 4867 |
rs76740460 | snp | C/T | 0.00914312 | 0.0669923 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128584 | AACAGAATTTGGATC[C/T]TTCTTTGCTGCCTTC | 4867 |
rs76894549 | snp | C/T | 0.491629 | 0.0641526 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136745 | TGAAAATGGCTATAC[C/T]GCCCAAGGTAATTTA | 4867 |
rs76950110 | snp | A/C | 0.0248432 | 0.108648 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133960 | CAACCTAACTTTATG[A/C]CCTAAGGAACTAGAA | 4867 |
rs77010894 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181687 | AAAGATGAGAAATAA[C/T]TGACACAAAATGCTG | 4867 |
rs77036348 | in-del | -/AAA | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110152615 | AAAAAAAAAAAAAAA[-/AAA]GGTTGCCCCTGCTTC | 4867 |
rs77494782 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110140588 | TGTACTTGAAATATA[C/T]ACATGGGAGTGCTTC | 4867 |
rs77517397 | snp | A/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159438 | GGCAAGATTTTTTTT[A/T]AATTATAGGTTTAAT | 4867 |
rs77578316 | snp | G/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152619 | AAAAAAAAAAAAAAG[G/T]TTGCCCCTGCTTCTC | 4867 |
rs77680887 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128358 | CCCTCAGCCCCACAC[C/T]GAGACTCAGGCTTAC | 4867 |
rs77877851 | snp | G/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166472 | AGTTGAAAGTTTTTT[G/T]GTGTAACTTCCAAGA | 4867 |
rs77957216 | snp | A/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203495 | GCCCCATCAAGTTTT[A/T]TTTTTTATTTCTACC | 4867 |
rs77971562 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180208 | TATGAAGGCAGTTTA[A/G]GATTCCACAGTTGGC | 4867 |
rs78206992 | snp | A/G | 0.148661 | 0.22854 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164265 | TGGTCTTGAATTCCT[A/G]GCCTCAAGTGATCCT | 4867 |
rs78458865 | in-del | -/T | 0.470715 | 0.117409 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176041 | GTTCCAGAATTTTCA[-/T]TTTGGTCTTTATTAG | 4867 |
rs78587260 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143102 | CAAAGGGGCATGAGA[C/T]AACTTTTTAGAGTGA | 4867 |
rs78635745 | snp | C/T | 0.0174175 | 0.0916809 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205791 | ACAGAGAAAAGTCTA[C/T]AGACTTTGTGTGCAG | 4867 |
rs78709885 | snp | C/T | 0.0325976 | 0.123435 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203338 | GTGTGATAGGCTCAT[C/T]TGTACCCCAAACCTC | 4867 |
rs78967435 | snp | A/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163253 | AACATACAGACTTTA[A/G]TGGAAGAATAATACG | 4867 |
rs79005630 | snp | G/T | 0.031825 | 0.122064 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185101 | TATCCTTGCCTCCAT[G/T]ACACCTTTAAGAAGA | 4867 |
rs79124823 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190856 | GTCTAAAAATAAGCA[A/G]ATTTATAAGAAAAAA | 4867 |
rs79311541 | snp | A/G | 0.0189856 | 0.0955633 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141649 | CATACATTGCTAATG[A/G]GAGTGCAAAGTGCTA | 4867 |
rs79317573 | snp | A/C | 0.000235645 | 0.0108521 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164489 | TATTCTTTTTGTACA[A/C]AAAAAAAAAAAAACT | 4867 |
rs79332992 | snp | A/G | 0.0244538 | 0.107838 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124159 | CTAAGAGGTAGGATG[A/G]AGGGTGCCATTAGTG | 4867 |
rs79398758 | snp | A/T | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180056 | TACTGTGTGCCAACC[A/T]TGTTAAGCAGTTTAC | 4867 |
rs79411784 | snp | A/C | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139824 | GCGTGCCTTTGAAGG[A/C]GAGGAGGAGAAGGAC | 4867 |
rs79422557 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174988 | GTTAGTGTGAATTCA[A/G]TGTTAATGAATCAAT | 4867 |
rs79424662 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149510 | AGTTGAGGTGGCTGG[A/C]CTCATCCACACCCTG | 4867 |
rs79575098 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169547 | TATACATGACATTCA[A/G]TAACAAATTATAAAA | 4867 |
rs79655857 | snp | A/G | 0.02016 | 0.0983543 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184905 | GTGAAGGCATCCACA[A/G]GGTCCTGGTGTTCGC | 4867 |
rs79743509 | snp | C/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172002 | CTTAAATGTTTACAA[C/T]AAATTCACCAGTAAA | 4867 |
rs79771469 | snp | A/G | 0.00835141 | 0.0640778 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181137 | GTCTGGAATCTTTCT[A/G]AGGCAGTTCCAAGTT | 4867 |
rs79943015 | snp | C/G/T | 0.00949494 | 0.0682445 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163014 | TCTTGACTGCTTTGC[C/G/T]GAAAGAGTGCAGTGG | 4867 |
rs111227578 | snp | G/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176044 | CCAGAATTTTCATTT[G/T]GGTCTTTATTAGTTC | 4867 |
rs111409412 | snp | C/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203925 | TAGCATGAGCCACCA[C/G]ACCTGGCCTAAAAAT | 4867 |
rs111419822 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181156 | CAGTTCCAAGTTACC[A/G]GGGCAGGGGTGGCTG | 4867 |
rs111449553 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135681 | GAGGAAGGACCATAT[A/G]GAAAATCTCAAAAAC | 4867 |
rs111454868 | snp | A/G | 0.00895084 | 0.0662971 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178347 | TCTATACTGCTATAT[A/G]TCTTTGAGTTAAACA | 4867 |
rs111460974 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184114 | ACAATGAATCTGGTG[C/T]GATTAAAGCTGGTTT | 4867 |
rs111532194 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129106 | TAACAAAAAAAAAGG[C/T]CTAGACAGAACTCAT | 4867 |
rs111533672 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154854 | GCAACCTGACAATGC[A/G]ATAGAAAAGAAAATC | 4867 |
rs111737145 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170975 | CTTTACCTTTAAAGT[C/T]GCCCCTAAAAATGAG | 4867 |
rs111744988 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155702 | GTAGCCTCTTTGTTT[C/T]GGCCAGTTTATCCCA | 4867 |
rs111943862 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170796 | TTGAGAGATGATATG[A/G]AATTAATCAGGTAAA | 4867 |
rs111971027 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179953 | AAATAAGGAAGAACG[C/T]TGGACTTTAAAATGC | 4867 |
rs112020312 | snp | A/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150009 | GGGATGATTCATAGG[A/T]ATTACTAACATTGGT | 4867 |
rs112055343 | snp | C/T | 0.00874735 | 0.0655527 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186110 | CCTGCTGATGGTAAG[C/T]GGACAGTGTCCACAG | 4867 |
rs112065122 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178789 | ATTTTCTTGCTAAGT[A/G]TTATAGACCTTCCAT | 4867 |
rs112090963 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148167 | CCTGGTGGGAGGTGT[C/T]TGGGTCATGAGGGCA | 4867 |
rs112090979 | snp | A/G | 0.0205189 | 0.0991888 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143523 | CAAATTCACTGGACA[A/G]GTAAAAGCAGGTACC | 4867 |
rs112097279 | snp | G/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159637 | TGTCTCTATTTCCAT[G/T]TCAGATGTTAATAGT | 4867 |
rs112297047 | snp | A/G | 0.5 | 0 | missense | NPHP1 | GRCh38.p7 | 2:110160207 | GAGGAATCATTTTAC[A/G]GCTCCATAATGTCAG | 4867 |
rs112307345 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162539 | TGAATCCTCTTTAAA[A/G]TGAGCTTATAGACAA | 4867 |
rs112397104 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191498 | CTTGAGTAGGTAAAC[A/G]AAGCAGCCTGGAAGC | 4867 |
rs112428035 | in-del | -/T | 0.00130574 | 0.0255179 | intron-variant, frameshift-variant | NPHP1 | GRCh38.p7 | 2:110125285 | GTACAGCTCAGGCCA[-/T]TTTTTTTTCCCTTCT | 4867 |
rs112436493 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194274 | GCAAGACTAATAAAG[A/C]AGAAAAGAGAGAAGA | 4867 |
rs112464117 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154630 | TTGTTGGGCACTGGA[A/G]AAAAGGTGACTCTTG | 4867 |
rs112467417 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194075 | GAAATAAAATTGACA[C/T]CCTAATATCACAATT | 4867 |
rs112494077 | snp | C/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110136389 | AGTCAAATTGTCCCT[C/G]TTTGCAGATGACATG | 4867 |
rs112511940 | in-del | -/CTGGTGACTG | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203241 | TGGGAGCAATGGACA[-/CTGGTGACTG]CTGGAGTGGGGTGGG | 4867 |
rs112530602 | in-del | -/CTCAAGCAATC | 0.471292 | 0.116318 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142438 | CCTCAACCTCTTGGG[-/CTCAAGCAATC]CTCAAGCAATCCTCC | 4867 |
rs112623366 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178692 | GGGAAATAAATTAGA[C/T]TTAAAAGAAACAGGC | 4867 |
rs112631587 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147014 | GGGTCAGATATTAAA[A/G]GTAGTATATCAAGTG | 4867 |
rs112638779 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190720 | GCGCCAAGAGTGAGC[A/G]AGGGCTGTGAGGACT | 4867 |
rs112702459 | snp | A/C | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149232 | AGTTTCCACGTGCCT[A/C]GGAAAAAATGCTTGC | 4867 |
rs112709721 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139738 | GCCCCTGTCCTTTCT[C/T]CTTTGAGCAGAGAAG | 4867 |
rs112713403 | snp | A/G | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173908 | CCCATATTATTAAAT[A/G]TATACTCATTTAGGA | 4867 |
rs112722651 | snp | C/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190587 | CTCCCTCCACACCTC[C/G]TCGCAAGCTGAGGGA | 4867 |
rs112745291 | in-del | -/T | 0.316243 | 0.241064 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174818 | TTTGCATTTTTGTGC[-/T]TTTTTTTTTTTTTGG | 4867 |
rs112785107 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161100 | GAGCCCAGGAATTTG[A/G]GGTTACAGTGAGCCA | 4867 |
rs112789806 | snp | A/C/G | 0.0142839 | 0.0833853 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193074 | ATTGTGAAGACCATC[A/C/G]AGGCTAGGAAGAAAC | 4867 |
rs112799455 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161435 | ATAAAGTCAAGGTAG[C/T]AAGTCCAAATTCTGC | 4867 |
rs112870680 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145492 | ACAGGGTCTCACCAT[A/G]TTGCCCAGGCTGGTC | 4867 |
rs112898069 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157513 | AGTATACTCAGCATG[G/T]GCAAAACCAAGCCCA | 4867 |
rs112899463 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138162 | GGGAACATCATACAC[C/T]GGGGCCTGTTGTGGG | 4867 |
rs112904599 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164936 | CAATAGTATGAAAAG[C/T]TCTCCAGGTACAAGT | 4867 |
rs112938430 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159792 | TATTTCATTAATTTC[C/T]ACTCTTATCTGTATT | 4867 |
rs112952046 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194527 | TTAATAGCTTACCAA[A/C]CAAAAAAAGTCCAGG | 4867 |
rs113070959 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145695 | GTCTATATTAATACA[C/T]AGAGCTCTACCTCAT | 4867 |
rs113117909 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174472 | TTCACCAAAGATAAA[A/G]TAACTTTAAGATAAA | 4867 |
rs113177552 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129595 | GGTAAAAGGAATCTT[C/T]CCCTTAGAGGTAGCC | 4867 |
rs113224698 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179731 | TTTTTCTATTATCAG[A/G]ACCAGAAAGCTATTT | 4867 |
rs113231335 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178656 | CAAAGTAAATATCAG[C/T]GTGACATTACACCTA | 4867 |
rs113258325 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127726 | GCTGAGCTCCATGGC[C/T]GGCCAAGTCACTGCA | 4867 |
rs113273725 | snp | C/T | 0.5 | 0 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178540 | GCAACAGGTGCAGAT[C/T]CATCAGCCTATGAGA | 4867 |
rs113313101 | snp | C/T | 0 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198800 | AGCAGGAAGGACCCC[C/T]CTCTATCTAACAGTA | 4867 |
rs113319672 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203816 | AAAGTTTTTTTTTTT[C/T]TGAGACCAAGTCTTG | 4867 |
rs113383067 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176572 | CTTTGGATTATGTTA[C/T]ATTCCTCTAAGAAAT | 4867 |
rs113450177 | snp | A/G | 0.00707621 | 0.0590596 | missense | NPHP1 | GRCh38.p7 | 2:110165091 | GCTGTTTCATCCACC[A/G]CCTCTACATCTTCTT | 4867 |
rs113489253 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182808 | ATACTAACCTTAAAT[A/G]TAAGTGGGTTAAATG | 4867 |
rs113684207 | snp | A/C | 0.0174175 | 0.0916809 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178284 | ACCTTCTATTATACA[A/C]AATAAATAAATGTTG | 4867 |
rs113691770 | snp | C/T | 0.5 | 0 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178507 | GTATGCTCCTCTTCT[C/T]TTCTCTGATTATAGT | 4867 |
rs113765220 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110161095 | CGCTTGAGCCCAGGA[A/C]TTTGAGGTTACAGTG | 4867 |
rs113766754 | snp | A/C | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155584 | CATGTGAACCCACCT[A/C]TTACATCAGCGTGAC | 4867 |
rs113769216 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178319 | ATTCTATTGTTAGTG[C/T]CATTTGTTTATATCT | 4867 |
rs113770212 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131615 | AGATACAAGATGGTA[C/T]AGGTTACCTTTACTC | 4867 |
rs113783262 | snp | A/G | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180440 | TCACTTTTTTATGCC[A/G]TTTGAGTCTTTTTTT | 4867 |
rs113861073 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110194656 | TCCCTAACTCATTTT[A/G]TGATGCCAGCATCAT | 4867 |
rs113910892 | snp | A/C | 0.477768 | 0.103061 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155098 | TTGGTGCCCTGTGTC[A/C]CAGCCACTCCAGCTG | 4867 |
rs113977707 | snp | C/T | 0.5 | 0 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189746 | TTACAATCCCTGAGC[C/T]AGACACAAAGGTTCT | 4867 |
rs113982944 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171594 | ATATTGATTTTCAAC[A/G]CGTCTCTTTCCTTCT | 4867 |
rs114043910 | snp | C/G | 0.104859 | 0.203554 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151113 | AGAGGTTGCAGTGAG[C/G]TGATACCACACCACT | 4867 |
rs114095569 | snp | G/T | 0.0193772 | 0.0965046 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205715 | AATGAATGTTCTTCA[G/T]AACAGCCACAGGCCA | 4867 |
rs114137273 | snp | C/G/T | 0.0358274 | 0.129788 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138672 | AGCATGAACAACATG[C/G/T]TCATGTTCTGCCCTT | 4867 |
rs114139155 | snp | C/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188266 | CTATATCTAGAAAAC[C/T]CATTGTCTTGGCCCA | 4867 |
rs114139329 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204341 | AAGTTAACATTCCTC[A/G]TATGTTTATGAGTTA | 4867 |
rs114250691 | snp | A/G/T | 0.000496742 | 0.0157521 | missense | NPHP1 | GRCh38.p7 | 2:110163104 | GCAGGAATAGCTCCC[A/G/T]TCGTAGTTAACACAT | 4867 |
rs114257431 | snp | A/G | 0.0134861 | 0.0810011 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110122882 | TGTAGAAAATTATAC[A/G]TGGTATCTTTACTGG | 4867 |
rs114259789 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165960 | CCGAAAGTGCCATTC[A/G]CAAAGAAGATATACA | 4867 |
rs114288991 | snp | C/T | 0.0360663 | 0.129354 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138969 | TTCCCAAACTTAAGA[C/T]GAATAGAAAGTTCTG | 4867 |
rs114292676 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168876 | AAAATTCAATTACTG[C/T]GTAAAATATTTTTGA | 4867 |
rs114338801 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163835 | CCAGCTAATTTTTCT[A/G]TTTTTAGTCGAGGTG | 4867 |
rs114393408 | snp | C/T | 0.00716266 | 0.059414 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123289 | GGGGTAAATCACATT[C/T]AAGTATCAGACTGAA | 4867 |
rs114452682 | snp | C/G | 0.02016 | 0.0983543 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186523 | AGGAGTAGTCCAAAG[C/G]CCTTTAGCCCAGGTG | 4867 |
rs114836019 | snp | A/G | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142686 | ATCAGAGCTTAGACA[A/G]GCCTACCTTAAACAT | 4867 |
rs114928699 | snp | C/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188372 | CCTATATACCAACAA[C/G]AGGCAGGCAGAGAGC | 4867 |
rs115018607 | snp | C/G | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151902 | TATCTTTTCAATTTG[C/G]AGAATCCTAATTTTG | 4867 |
rs115023388 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167677 | GAGGTGATGGTATGG[A/G]AACTCGTGAATGTAT | 4867 |
rs115046210 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173429 | TATTTACATAATACA[C/T]ACTTAGGTGCTGTGT | 4867 |
rs115069018 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161064 | CCAGCTACTCAGGAA[A/G]CTGAAGTGGGAGGGT | 4867 |
rs115134940 | snp | A/C | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155534 | AGGAGTGGGGTTATA[A/C]CCTGCAAAACAACAG | 4867 |
rs115192511 | snp | C/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196994 | GGGACATGGTTACAG[C/T]TGGAAGTCATTATCC | 4867 |
rs115214923 | snp | C/T | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135521 | TGAGTTCTTTAAGAC[C/T]CTCACACATGATGTA | 4867 |
rs115244439 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169206 | CTATAAATCAAACCA[C/T]ATAATTATTTGCATA | 4867 |
rs115287573 | snp | A/C | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176726 | AGGGTGTTTTCTTTA[A/C]TCCTAGGGCCTGGGC | 4867 |
rs115288775 | snp | A/G | 0.00835141 | 0.0640778 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149365 | CACATACACAGAGAC[A/G]CAATAACAGAATTGT | 4867 |
rs115359423 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149468 | TAGGAGGTGTGCTCT[C/T]GACAAGTCTGGACAG | 4867 |
rs115536539 | snp | C/T | 0.0333695 | 0.124785 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177848 | CTGGGCTCAAGCAAT[C/T]CTCCTTGCCTCAGCC | 4867 |
rs115627088 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201227 | CCTATGTTTACATTA[A/C]GCAGTTTTTATAGTT | 4867 |
rs115627876 | snp | A/T | 0.0185938 | 0.0946107 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165870 | CTCAAATACCCTGAC[A/T]TGATTATTACACAAT | 4867 |
rs115678151 | snp | G/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159444 | ATTTTTTTTTAATTA[G/T]AGGTTTAATATCTTT | 4867 |
rs115841955 | snp | C/T | 0.0174175 | 0.0916809 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155705 | GCCTCTTTGTTTTGG[C/T]CAGTTTATCCCATTT | 4867 |
rs115893771 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186766 | CCCAAGCCTGTCCCT[C/T]GCACAGCCTTGCACA | 4867 |
rs116005136 | snp | C/G | 0.00914312 | 0.0669923 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164864 | GATGAAAACGAGGTA[C/G]AGCTAAATGTATTAA | 4867 |
rs116047229 | snp | A/C | 0.0740066 | 0.180129 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165237 | TACTGCCACCTAACC[A/C]TCCAGTAAAAACAAA | 4867 |
rs116141354 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159783 | TCTGTTTTCTATTTC[A/G]TTAATTTCTACTCTT | 4867 |
rs116235817 | snp | C/T | 0.00953873 | 0.0683987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183900 | AATTGATCAAGTAAT[C/T]GGAAATAAAATATTC | 4867 |
rs116247520 | snp | C/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171396 | ATACTTAGACTAATG[C/G]AAATGAACATCATTA | 4867 |
rs116299958 | snp | A/G | 0.0146672 | 0.084371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192843 | CCAGAAGAGAATGGC[A/G]GCCAATATTCAACTT | 4867 |
rs116315087 | snp | C/T | 0.02016 | 0.0983543 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199185 | CTCACGTAATCCCAG[C/T]ACTTTGGGAGGCCAT | 4867 |
rs116329819 | snp | A/G | 0.00186382 | 0.0304703 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129305 | TGCAAACTTCACTCA[A/G]TGGATTTTATTGCAA | 4867 |
rs116369394 | snp | A/C | 0.0126979 | 0.078662 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159287 | TCATGTTTTTTCTGG[A/C]CTTATGAAATAAGTT | 4867 |
rs116521002 | snp | C/G | 0.00953873 | 0.0683987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142194 | TGCCCTTCAATTTGT[C/G]AATGAATAAACACAT | 4867 |
rs116522763 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201715 | CTTATGCCTTTCAAA[A/G]TAAGTTGCAGTTATC | 4867 |
rs116523787 | snp | A/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132583 | CCCTTGAGCCTGGGC[A/G]GTGGATGTTGCCATG | 4867 |
rs116552489 | snp | A/G | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129707 | GGCCACCAGCGCTCA[A/G]GGAAGGACCCAAACT | 4867 |
rs116576008 | snp | C/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159245 | TGGTAATTTTCCTTT[C/G]TTGTAATGTCTTGTC | 4867 |
rs116607139 | snp | C/T | 0.104859 | 0.203554 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187574 | AGATGAATTCACAGC[C/T]GAATTCTACCAAAGG | 4867 |
rs116678683 | snp | A/C | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178223 | TAAATTGCCTGAGGG[A/C]AGAGACTATGACTTA | 4867 |
rs116718088 | snp | G/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197235 | ACCAGTATGGCACAC[G/T]TTTACCTATGTAACA | 4867 |
rs116729861 | snp | C/T | 0.00993419 | 0.0697739 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176298 | TTTTTAGTTATAGAA[C/T]GTTCATTTGATTTTT | 4867 |
rs116733998 | snp | C/T | 0.0170251 | 0.090679 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168404 | ATGTTTTATTAAAAG[C/T]GAAAAAAAAAAAAGT | 4867 |
rs116949501 | snp | A/C | 0.0165278 | 0.0893908 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164800 | TTAGGGAACTTCTTT[A/C]ATCACAGTTGATAAT | 4867 |
rs116996151 | snp | A/G | 0.0221141 | 0.102801 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191035 | AGGAACACTTGGGGC[A/G]GTTCCAAGATGGCCA | 4867 |
rs117495889 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160827 | AACAGCTTCAATTCA[C/T]TAAACTTTACATTCT | 4867 |
rs117503046 | snp | C/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171432 | AAAACTAGTCAACTA[C/G]AAGATTTTCTCTGGA | 4867 |
rs117603504 | snp | A/T | 0.0494327 | 0.149241 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142298 | AAATTGAAAATATCA[A/T]AAGTTGAAGATAATA | 4867 |
rs117733001 | snp | A/C/T | 0.0306941 | 0.120199 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182160 | CAAACCCGTGACTTA[A/C/T]TGGGGTACCTAAAAA | 4867 |
rs117781979 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184970 | CTTTTCTCCAACATC[A/G]TCCTCTTGGGAGGCT | 4867 |
rs117820434 | snp | G/T | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204325 | TACTTGAGTATCTTT[G/T]AAGTTAACATTCCTC | 4867 |
rs118005068 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181334 | CCATTCCACCTGACT[A/G]GGTGAGACCTCCCAA | 4867 |
rs118077013 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143120 | CTTTTTAGAGTGAGG[A/G]AAAGTTCTCTATCTT | 4867 |
rs121907898 | snp | A/T | | | stop-gained | NPHP1 | GRCh38.p7 | 2:110201484 | CATAGGTTGATAGTT[A/T]GCTTTCTGAGAGCCA | 4867 |
rs121907899 | snp | A/G | 0.000217637 | 0.0104293 | NPHP1 | 2 | allele_origin=G(germline)/A(germline) | 2:110163048 | CAGCTTCTGGAGGAA[A/G]GTAATGCGTGCCTAT | 4867 |
rs137869466 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142344 | GCATTTAATACACTT[A/G]GACTTTTTTTTTTTT | 4867 |
rs137982337 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185148 | GGAATATGAGGAAGA[C/T]GGTGCCTGATCTATC | 4867 |
rs138121644 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173811 | AGGCTTGACTATACA[A/T]GTAATTAGATCACGG | 4867 |
rs138125281 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179836 | AATGCTTTTCCACCT[A/G]TTAGCTCAGATGATC | 4867 |
rs138181219 | snp | A/G/T | 0.0005271 | 0.0162259 | stop-gained, missense | NPHP1 | GRCh38.p7 | 2:110125677 | TCTTTTCCAGCCCAC[A/G/T]AACTCTAAAGAGCAA | 4867 |
rs138225168 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157680 | CCATCACCAAGCTTC[A/G]TTGATTTTTACTCCC | 4867 |
rs138267885 | snp | G/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204138 | CCCTGGAAATGTAAT[G/T]TTTGAGCCTAGGTGC | 4867 |
rs138298738 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193902 | CAACCTGCTCCGGAA[C/T]GACTACTGGATACAT | 4867 |
rs138315528 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189481 | TTCAGGAGTGAAGCT[A/G]CAGACCTTCGCGGTG | 4867 |
rs138390312 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198818 | CTATCTAACAGTAGA[A/C]AAGCCCATGAGAGCT | 4867 |
rs138449721 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140142 | TGTCCCAACTCACGT[C/T]TGAAATTCCCAGGAA | 4867 |
rs138475691 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156470 | TGTCTTTATCAGCAG[C/T]GTGAGAACAAACTAA | 4867 |
rs138483878 | snp | C/T | 0.0314385 | 0.121371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153703 | AATGTTCAAGTGGGG[C/T]GGGTGCGGTAGCTCA | 4867 |
rs138573844 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175009 | ATGAATCAATAAAAT[A/G]TATGAAATAAAGTGT | 4867 |
rs138623864 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185379 | CCACGATGGTGATGG[C/T]CTGAGGCCTGGGGGT | 4867 |
rs138643844 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180648 | CATTGAGACTGACAA[A/G]GCAAACACCTTGACC | 4867 |
rs138705625 | snp | C/T | 3.29522e-05 | 0.00405894 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110165096 | TTCATCCACCGCCTC[C/T]ACATCTTCTTCACTG | 4867 |
rs138732827 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189307 | CAGAGTTTGTTCCTT[C/T]TGACGTTCGGATGTG | 4867 |
rs138741638 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110129869 | GTGCAAAGAAGCACA[C/T]CAGGAAAGACATGTC | 4867 |
rs138755812 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133805 | AAGAAGAAATCTCAA[C/G]AGAAACTAGAAAATA | 4867 |
rs138809408 | in-del | -/ATACTC | 0.0952156 | 0.196321 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144659 | TTTTTTAGCACTAAT[-/ATACTC]AGACATTTCATTTAT | 4867 |
rs138845076 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199175 | GGCACGGTGGCTCAC[A/G]TAATCCCAGCACTTT | 4867 |
rs138853565 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153939 | AGTGAACTGAGATTG[C/T]GCCATTGCACTCCAG | 4867 |
rs138932349 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157253 | TGAAAATAAAATTCC[A/G]TTCCTTTTTATGTTC | 4867 |
rs138944041 | snp | A/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148782 | ACAAAAATTAAAGAC[A/T]GAATACACATATTTG | 4867 |
rs138949864 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193265 | TTCAGGAAACCCATC[C/T]CATGTACAGAGACAC | 4867 |
rs139001080 | snp | A/C | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163257 | TACAGACTTTAGTGG[A/C]AGAATAATACGATTT | 4867 |
rs139009522 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176082 | TCTGCTTAAGATTTC[A/G]CTCTATTCATCTTAT | 4867 |
rs139016805 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162299 | ATAATTATTAGGGGA[C/T]ATAGAGCTATAAAGG | 4867 |
rs139132207 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168195 | ACACCTATTATTTGT[C/T]ATGATCAGCATTAAT | 4867 |
rs139209422 | snp | C/G | 0.00438332 | 0.0466095 | intron-variant, synonymous-codon | NPHP1 | GRCh38.p7 | 2:110124549 | TGGGATGGAGGTCGA[C/G]GGGTCCTTTGGTGAT | 4867 |
rs139296629 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144154 | TTTCTAGAGGGCAAT[C/T]TGGCATGCATATTAC | 4867 |
rs139351664 | in-del | -/T | | | intron-variant, frameshift-variant | NPHP1 | GRCh38.p7 | 2:110125293 | GTACAGCTCAGGCCA[-/T]TTTTTTTTTCCCTTC | 4867 |
rs139437650 | in-del | -/AAAAC | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162026 | TTGGAGACTTCAGAA[-/AAAAC]AAAGTCGTTAGTTTT | 4867 |
rs139446676 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131291 | ATCCATTTGATACTT[A/G]TACTTCATGCACTAA | 4867 |
rs139466309 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187933 | ATGACTATCTCAATA[A/C]ATGCAGAAAAGGCTT | 4867 |
rs139488305 | in-del | -/GG | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110199457 | TAAAACAATATGGCT[-/GG]GTTGAAATAGGTAAT | 4867 |
rs139542338 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201279 | CAACCATCAGGTTTA[G/T]GTTGGTTTCTTCTAC | 4867 |
rs139613348 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150425 | TTCTTTTTATATCAG[A/G]TATGACATAAATGAA | 4867 |
rs139616303 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200280 | AAACATAACAATTAT[C/T]AGGCTGGGCACAGTG | 4867 |
rs139627954 | in-del | -/A | 0.4661 | 0.125701 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187910 | AACAGAACTTAAGAC[-/A]AAAAAAAATGACTAT | 4867 |
rs139656459 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163683 | TTTTGTTTTTTGAGA[C/T]GGAGTCTCACTCTGT | 4867 |
rs139661181 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148807 | TATTTGCTCAACTTT[C/G]CTAATGTGTGCCTTG | 4867 |
rs139744320 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158222 | TTTCTGACCCAGGAC[C/T]GTCTATATTGGTGAC | 4867 |
rs139761180 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187223 | CCTACAAAGAACAAA[C/T]TCAGGAGCTGGTTTT | 4867 |
rs139787582 | snp | C/T | 0.000312981 | 0.0125057 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164599 | CCTGTTTCAGATCCA[C/T]TGGTGTCTTCCACAG | 4867 |
rs139809784 | snp | C/T | 0.00953873 | 0.0683987 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155396 | CCTCCTGGGGCACCA[C/T]CTAGTGGAGCTGTGA | 4867 |
rs139810603 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110204606 | AGTGAGTTGTTAGGG[C/T]AGGAGGTTGAGACGT | 4867 |
rs139853616 | snp | A/T | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110137424 | TGTTGCAATCTACTC[A/T]TCTGACAAAGGGCTA | 4867 |
rs139886742 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110169291 | AGAACTAAAATTCAT[A/G]TATTCACTTAAATTT | 4867 |
rs139901700 | snp | C/G | 0.00398564 | 0.0444627 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123585 | AATTTAGATATAACA[C/G]TATTCCTTATAAAAA | 4867 |
rs139992578 | in-del | -/TCTC | 0.239614 | 0.249784 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175805 | TTTCTTGTGCTTCAT[-/TCTC]TCTCTTATTCTGAGA | 4867 |
rs139998523 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145077 | TAGTGTGGTTAATCT[C/T]CTGCCCTATCTTTTC | 4867 |
rs140034444 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183623 | TTAGGGTCTCCATGA[C/T]CGAGCTGGTCTCGGC | 4867 |
rs140097469 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149364 | TCACATACACAGAGA[C/T]GCAATAACAGAATTG | 4867 |
rs140151060 | snp | C/T | 0.000296589 | 0.012174 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164554 | ACCAGAAATATACGT[C/T]CTCTGCTCTGTACAT | 4867 |
rs140168749 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135959 | TCATGGAATGCATCA[A/G]AAAGCTTATCCACCA | 4867 |
rs140233846 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186111 | CTGCTGATGGTAAGC[A/G]GACAGTGTCCACAGG | 4867 |
rs140235718 | snp | A/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132241 | TAAGTCCTGACTTTG[A/T]CACTTCTTAGCTATG | 4867 |
rs140241273 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161212 | TAAATGATAATAATG[A/G]CTAACATCTATTGAG | 4867 |
rs140257748 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184516 | CCACAGGCAGGACCA[C/T]GGGGGTGGTGCTGGA | 4867 |
rs140390554 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139237 | CACACACACACGCAA[C/T]CTACTTCTCCAGATC | 4867 |
rs140421753 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133405 | CCTAAATATATGAAG[C/T]AAACACTGACAGAAT | 4867 |
rs140446520 | snp | A/G | 0.00243798 | 0.0348288 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110178520 | CTTTTCTCTGATTAT[A/G]GTTTGCAACAGGTGC | 4867 |
rs140456388 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134218 | GAGTACTATAAATAG[C/T]TGTATGCCAACAAGT | 4867 |
rs140469160 | snp | A/G | 0.000538666 | 0.0164025 | missense | NPHP1 | GRCh38.p7 | 2:110161604 | GTAACTATACTTACA[A/G]TGCCTTCTGTAGCAT | 4867 |
rs140593944 | snp | A/G | 0.0360663 | 0.129354 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199522 | ATGGTAGCTCGTGGC[A/G]GGGGAGGGGGGCATC | 4867 |
rs140651475 | snp | A/T | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166240 | GAACCAGTGATGAAC[A/T]TCTAGGAATTTATCT | 4867 |
rs140656610 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195899 | ACAAAAACAAGAAAT[A/G]GGGAAATGATTCCCT | 4867 |
rs140734413 | snp | C/G | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197590 | AGGCATGAAAAGAAT[C/G]TCTCCTACATCTGCT | 4867 |
rs140807001 | snp | G/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139564 | TCCTGATATCCAAAA[G/T]ATATACATGTGTAGG | 4867 |
rs140816414 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162128 | CATCATTTATCCATT[C/T]GAGAAATAATTTTTG | 4867 |
rs140840586 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189180 | TAAAGAACTTTTGCA[C/T]AGCAAAAGAAACTAT | 4867 |
rs140913183 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179231 | ACATTGATATCAGAG[C/T]TGCCATTTGATACAA | 4867 |
rs140979636 | snp | A/C/T | 9.93142e-05 | 0.0070462 | missense, utr-variant-3-prime | NPHP1 | GRCh38.p7 | 2:110148019 | AAACATGGTAAGATG[A/C/T]GAGTAACCTGAAATG | 4867 |
rs141003164 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183402 | CCTCCCCTTTATTTC[A/G]GCCCATCCCTTTATT | 4867 |
rs141064408 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177071 | TGGAATCTACCTTCC[G/T]CCACCACAGCTCATA | 4867 |
rs141143145 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180271 | CTTGCTTGTCCAGAC[A/G]GGTCCAGAGTTTTAT | 4867 |
rs141159932 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153015 | TCATGCCAGATACAC[C/T]GTAAACTTCTGAAAA | 4867 |
rs141257097 | snp | C/T | 0.0205511 | 0.0992634 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192132 | ATTGCAGCTCCTCAC[C/T]AGCAACAGAACAAAG | 4867 |
rs141343853 | snp | A/C/G | 0.000331414 | 0.0128693 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202441 | TGTCCTACAGACACC[A/C/G]AATAGAAAATCTGTT | 4867 |
rs141348029 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110147313 | CCTACCCCCTCCACA[A/G]TACATATGGATGAAT | 4867 |
rs141378467 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167504 | ACACAGCGAAGTGCT[A/G]GGAAGGTGGAAGGCC | 4867 |
rs141453281 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156475 | TTATCAGCAGCGTGA[A/G]AACAAACTAATACAG | 4867 |
rs141486444 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202701 | AATCATCAGAGAAAT[A/G]CAAATTAAAACTACA | 4867 |
rs141532509 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157493 | TCTTCATGCTGGGGG[C/T]TAGCAGTATACTCAG | 4867 |
rs141625783 | snp | C/G | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181840 | GTAATAAAAAACTTT[C/G]TTGAGTTAAAGGAGT | 4867 |
rs141675103 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175296 | TTTATATGTACCCAC[A/G]TACCCATCTTCTTCA | 4867 |
rs141686332 | snp | A/G/T | 4.94192e-05 | 0.00497067 | synonymous-codon, missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123943 | TGATAACTTTCCACC[A/G/T]TGCAGTCTCAGTCTC | 4867 |
rs141698068 | snp | C/T | 0.00517822 | 0.0506191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131138 | AGGTTCAATCATGTA[C/T]GGTGACTCATTGATT | 4867 |
rs141702314 | snp | A/G | 0.00993419 | 0.0697739 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128881 | AAATCCAAAATGGTC[A/G]GTAAGATAAATCAAT | 4867 |
rs141705519 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130561 | TTTGAGTTCCACTTC[C/T]ACCTATCTATCCAGG | 4867 |
rs141763330 | snp | C/T | 0.000447164 | 0.014946 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110163106 | AGGAATAGCTCCCAT[C/T]GTAGTTAACACATCA | 4867 |
rs141773308 | snp | A/G | 0.00140217 | 0.0264408 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123760 | GATCCATCTGATTCC[A/G]TGGGAAGCTGAGGGC | 4867 |
rs141786398 | snp | C/T | 0.000307953 | 0.0124049 | missense | NPHP1 | GRCh38.p7 | 2:110131763 | AGTGAATAGAACACA[C/T]ATTTCCAATTAATGT | 4867 |
rs141801343 | snp | C/T | 0.00993419 | 0.0697739 | downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123253 | AAAAGGCAAAAGCGA[C/T]TCTGTTTTTGTACTT | 4867 |
rs141907218 | snp | A/G | 0.000314755 | 0.0125411 | missense | NPHP1 | GRCh38.p7 | 2:110163107 | GGAATAGCTCCCATC[A/G]TAGTTAACACATCAA | 4867 |
rs141943785 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186603 | CCATGACCCACCCCA[A/G]TCCCAGACTCCATGC | 4867 |
rs142050569 | snp | C/T | 0.0352966 | 0.128072 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155756 | ATGCCTGTACCTCCA[C/T]TGTATCTGGAAAATA | 4867 |
rs142114798 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152055 | CCACAGAGGGTGAAT[A/G]ACTGGCTTAGAATCA | 4867 |
rs142136351 | snp | A/T | 0.0352966 | 0.128072 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193859 | TTAAGAAACTCACTC[A/T]AAACCACTAAACCAC | 4867 |
rs142169303 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158941 | TGCAATTTGAGGACT[C/T]TCCCTTCTATTCCTA | 4867 |
rs142261660 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183974 | AATGCAATCAAATTA[A/G]AACTCAAGATTAAGA | 4867 |
rs142276257 | snp | G/T | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194988 | ACTCTCAAGAAATTA[G/T]GTATTGATGGGACGT | 4867 |
rs142310571 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132600 | TGGATGTTGCCATGA[A/G]CCAAGATTGTGCCAC | 4867 |
rs142438369 | snp | A/G | 0.021333 | 0.101051 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127613 | TTTTTGCTAAATAAC[A/G]TATGTGCACAACTTT | 4867 |
rs142445880 | in-del | -/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110138543 | AAAGACGGGATGCAG[-/G]GGGACCATTTCAGCT | 4867 |
rs142491109 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172738 | GCAGTGAGCCAAGAT[C/T]GCACCACTATACCCA | 4867 |
rs142551033 | snp | G/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174451 | AGTCTAATTTAAATA[G/T]CACATTTCACCAAAG | 4867 |
rs142565272 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168197 | ACCTATTATTTGTTA[C/T]GATCAGCATTAATCC | 4867 |
rs142621921 | snp | A/G/T | 0.00358891 | 0.0422285 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201099 | TGTCTTCTCATGGGA[A/G/T]TTAAAGTTGACATCC | 4867 |
rs142670785 | snp | A/G/T | 8.23982e-05 | 0.00641822 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164552 | AAACCAGAAATATAC[A/G/T]TCCTCTGCTCTGTAC | 4867 |
rs142692122 | snp | A/G | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189351 | CCTTCTGGTGGGTTC[A/G]TGGTCTCGCTGGCTC | 4867 |
rs142698788 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185598 | ACCAGGGTGCCCTGA[A/G]GACCCAGGCAGCTGC | 4867 |
rs142766517 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141543 | TATTTAAAACACCAT[A/G]AGAAACCACTATTCT | 4867 |
rs142827621 | snp | C/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193910 | TCCGGAATGACTACT[C/G]GATACATAACGAAAT | 4867 |
rs142943917 | snp | A/G/T | 0.0123036 | 0.0774623 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153710 | AAGTGGGGCGGGTGC[A/G/T]GTAGCTCACAACTGT | 4867 |
rs142956195 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198850 | TCTGGAATAATCAAC[C/T]TAGTCCCTCATTGTT | 4867 |
rs142958029 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148835 | TTGTGAATTTTCATT[C/T]ATTTTCTCTTTTGCT | 4867 |
rs142958581 | snp | G/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171266 | AGTTTAAATTTTGGG[G/T]AGCACCTACTGTGTG | 4867 |
rs142959004 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167402 | CTGAGTTAATCACCA[A/G]TTGCTAATGATTTAG | 4867 |
rs143017147 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152222 | TACTTGGGAGGCTAC[A/G]GCAGGGAGATTGCTT | 4867 |
rs143024650 | snp | G/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163504 | AATGGATTTTTTTTG[G/T]ATACACATACACACT | 4867 |
rs143050339 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197136 | GCCTGTAGGAAGGAG[A/G]TATTAGAGGAGGGAG | 4867 |
rs143107659 | in-del | -/T | 0.02016 | 0.0983543 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171638 | TGCACATATTTTATA[-/T]GGGTCAATTATTCTA | 4867 |
rs143120100 | snp | A/C | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110146423 | TGGACTCTGGACTTA[A/C]CTTTCCCACTCTTTG | 4867 |
rs143163969 | snp | C/T | 1.64917e-05 | 0.00287151 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169872 | GTATTCTTCACCGGT[C/T]GACCATTTGTGAGAT | 4867 |
rs143174377 | snp | C/T | 0.0010539 | 0.0229311 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164629 | GTCTCCATCCTATTT[C/T]GCATCAGAACTATTA | 4867 |
rs143231282 | snp | A/G | 8.77709e-05 | 0.00662403 | missense | NPHP1 | GRCh38.p7 | 2:110129253 | AGCATGGGATGGCTA[A/G]TTAAATCTGAAATGC | 4867 |
rs143318007 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110132484 | ACATGGTGAAACCAT[A/T]TCTCTGCTGAAAATA | 4867 |
rs143365854 | snp | A/G | 0.00479931 | 0.0487506 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202454 | CCGAATAGAAAATCT[A/G]TTCCATATTCAGCTT | 4867 |
rs143378458 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148277 | CTCCTTCCTCCTTCT[C/T]GCTCCTGCACTGTCA | 4867 |
rs143466389 | snp | A/G | 0.0240643 | 0.107019 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156403 | CCTCCTCAGCCATGC[A/G]GAACTGTAAGTCCAA | 4867 |
rs143541853 | snp | A/C | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188726 | AAGCTGGAGGCATCA[A/C]ACCACCTAACTTCAA | 4867 |
rs143578534 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174071 | AAATAATATCTTTGT[C/T]GTAGAACATGGAATA | 4867 |
rs143598678 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145304 | TGTTTTGTTTTTGCT[C/T]TTTGGAGGCAGAATC | 4867 |
rs143787130 | snp | C/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162894 | TCAGGGATCTTTCCT[C/G]ACTGTCATAGGAAGG | 4867 |
rs143838238 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204446 | CTTGACACCTATTTC[C/G]CTTGAGTTCACGGAG | 4867 |
rs143911539 | snp | A/G | 0.0325976 | 0.123435 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135472 | ACACAGCGAGACCCC[A/G]TCTCAAAAAAAAAAA | 4867 |
rs143976238 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161872 | GGATAAAAACAGCAG[C/T]ACAAAACTTACAGAT | 4867 |
rs144070774 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206244 | GGCAAACACATAACA[C/T]TGCTGAGTCACAGGC | 4867 |
rs144088139 | snp | C/G | 9.89854e-05 | 0.00703441 | missense | NPHP1 | GRCh38.p7 | 2:110168457 | CAAGACTAACCTCTA[C/G]GTAGGTTCTGGGAAC | 4867 |
rs144202291 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138768 | CAGCCAAGGTTTTGC[C/T]AGGGAAAGGGGTGGG | 4867 |
rs144202432 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191008 | CAGATGTTGGCAAAA[C/T]TGCAGAGAAAAAGGA | 4867 |
rs144208455 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188545 | AAACATTCCATGCTT[A/G]TGGATAGGAAGAATC | 4867 |
rs144217506 | snp | C/T | 8.26194e-05 | 0.00642673 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110169992 | TTCTTCAGTAGGTGC[C/T]CCAACTCTACAAAAA | 4867 |
rs144296225 | snp | A/G | 0.0123036 | 0.0774623 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194111 | AACTGGAGAACCAAG[A/G]GCAAACACATTCAAA | 4867 |
rs144386428 | snp | C/T | 0.0387552 | 0.1337 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196320 | CAAGAAAAAAACAAA[C/T]GACGCCATCAAAAAG | 4867 |
rs144399537 | snp | A/G | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189695 | ATTTTACAGAGAGCC[A/G]AGTAGTCTGTTCTGA | 4867 |
rs144433906 | in-del | -/G | 0.00835141 | 0.0640778 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139679 | AGGCTTTCTGCCCTT[-/G]GCCTTGTCTCCACTG | 4867 |
rs144471565 | snp | A/G | 0.0356815 | 0.128715 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181372 | TTCCAGCCACCTCCT[A/G]CAAAGTGCGTTTGGG | 4867 |
rs144561813 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163973 | TGAGCCACTGTGCCC[A/G]GCCTGTAATTTTTTT | 4867 |
rs144693231 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199521 | CATGGTAGCTCGTGG[C/T]GGGGGAGGGGGGCAT | 4867 |
rs144741255 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154138 | GATGGGTCTTTCCTG[C/T]GCTGTTCTTGTGATA | 4867 |
rs144761207 | snp | A/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180388 | ATGATGAGATTTTTT[A/T]AATTCAAATGCTTTA | 4867 |
rs144779145 | snp | C/G | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148800 | ATACACATATTTGCT[C/G]AACTTTCCTAATGTG | 4867 |
rs144850331 | snp | C/G/T | 0.000395293 | 0.0140533 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123875 | AACTCCGTCTGGTGA[C/G/T]AGCAGAGCTTGGAGG | 4867 |
rs144855246 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130125 | AAGGGTCTCTAATCC[C/T]ATTCATAAGGCAACA | 4867 |
rs144855334 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184169 | CTGCTTTCCAAAGTA[C/T]GTGGGCCTACCCATG | 4867 |
rs144920285 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124859 | AGGCTGAAATAAGGA[C/T]ACAATGTATAAATTG | 4867 |
rs144949522 | snp | C/T | 0.0387552 | 0.1337 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196928 | CAAACACTGCATGTT[C/T]TCATAGAATACTGTG | 4867 |
rs145093826 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191408 | ACGCCCAGAGAGCCT[C/T]GCTAATTGCTAGCAC | 4867 |
rs145101389 | snp | A/C | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196867 | AAGGGACATGGATGA[A/C]GCTGGAAACCATCAT | 4867 |
rs145108100 | in-del | -/A | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142853 | ACCATGGTAAAGTTG[-/A]AAAATCTTGAGTAAG | 4867 |
rs145147532 | snp | C/T | 0.0178098 | 0.0926698 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162208 | AAATCAGAGATATGT[C/T]CCCTGCCCTCCATAG | 4867 |
rs145242638 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183636 | GACCGAGCTGGTCTC[A/G]GCAACCCAGATTCAT | 4867 |
rs145316308 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158384 | GTCCTATATTACTGA[A/G]AGAGAAGTGTTAAAC | 4867 |
rs145349438 | snp | A/G | 1.64754e-05 | 0.00287009 | synonymous-codon, intron-variant | NPHP1 | GRCh38.p7 | 2:110164598 | CCCTGTTTCAGATCC[A/G]TTGGTGTCTTCCACA | 4867 |
rs145371795 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166723 | ATTTAAGCTACTTTT[C/T]GGGGGGATCTTTTTG | 4867 |
rs145431039 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135099 | GACTAGCAAAGTTGC[A/G]GAATACAAAATCAAC | 4867 |
rs145476638 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170430 | GAGATAATAATAGAA[C/G]CTGCCTTCTAAGATT | 4867 |
rs145479679 | snp | G/T | 0.00111351 | 0.0235693 | missense | NPHP1 | GRCh38.p7 | 2:110201431 | TTTACCTTTGATAAA[G/T]ATGTTGTCTTTTATT | 4867 |
rs145522028 | snp | C/T | 1.65507e-05 | 0.00287664 | missense | NPHP1 | GRCh38.p7 | 2:110144529 | CCACTTCAATACCTT[C/T]TTCATAAGGAGTACC | 4867 |
rs145525644 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156246 | CCATGGGGGCAGGTC[C/T]TTCTTGCACTGTTCT | 4867 |
rs145550843 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132420 | AACACTTTGGGAGGC[C/T]GAGACAGGTGAATCA | 4867 |
rs145643062 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133572 | TACCCGGCAACAGCA[A/G]AATACACATTTTTCT | 4867 |
rs145646364 | snp | A/G | 0.093417 | 0.194889 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150636 | CTCACTGCAACCTCC[A/G]CCTCCCAGGTACAAG | 4867 |
rs145782735 | snp | A/G | 0.000798403 | 0.0199641 | | | GRCh38.p7 | 2:110198002 | AAAAACTAAGCACAC[A/G]TTCATCTTCACTGGC | 4867 |
rs145821412 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189247 | TTCAAGAATGAAGCC[A/G]TGGACCCTCGCAGTG | 4867 |
rs145848701 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202261 | TTTGGTCTGTTTTCT[A/T]TAGATTACGTAGAGA | 4867 |
rs145884677 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185343 | CCAGGGACCCCAGGT[A/C]CAGAAAGGATGAGGA | 4867 |
rs145956675 | snp | C/T | 0.0356815 | 0.128715 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168295 | CCAGGACCATTAATA[C/T]ACAATGTTTTTCCCA | 4867 |
rs146014294 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174485 | AAATAACTTTAAGAT[A/G]AATAATTCCATTTAC | 4867 |
rs146078910 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110149115 | CCTGGCACAGGGCCT[A/G]GCACACAGTTAGGGT | 4867 |
rs146200025 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant, missense | NPHP1 | GRCh38.p7 | 2:110124547 | CCTGGGATGGAGGTC[A/G]AGGGGTCCTTTGGTG | 4867 |
rs146220435 | snp | C/T | 9.89674e-05 | 0.00703377 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110143547 | AGGTACCCACCTTAG[C/T]ACATTTCTTGATCTT | 4867 |
rs146255792 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130883 | ATGTTCTCGTTGTGT[A/G]TTTTCCTTCACAGCA | 4867 |
rs146343637 | snp | C/T | 0.0177786 | 0.0925917 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163152 | TGAAGACAGTAACAT[C/T]AAAATGGATTTGTTT | 4867 |
rs146379247 | snp | A/C | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193896 | ACTGAACAACCTGCT[A/C]CGGAATGACTACTGG | 4867 |
rs146460084 | snp | A/G | 0.0126979 | 0.078662 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164375 | CTTTCAGGATTTTTC[A/G]AATAGTAAATAAAAT | 4867 |
rs146504142 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167140 | ACATGTATTTGTTCT[C/T]TGTCACTGATTCCTG | 4867 |
rs146556767 | snp | C/T | 0.0356815 | 0.128715 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191025 | GCAGAGAAAAAGGAA[C/T]ACTTGGGGCGGTTCC | 4867 |
rs146582797 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144853 | AATTCAAGTCATTAA[C/T]GTGTTCAGACCTTAA | 4867 |
rs146637942 | snp | C/T | 0.00215036 | 0.0327193 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202440 | TTGTCCTACAGACAC[C/T]GAATAGAAAATCTGT | 4867 |
rs146754587 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188668 | AAAGCTATTTTAAAA[C/T]TTATATGGAACAAAA | 4867 |
rs146758168 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184279 | CAATCTGCTATCTCA[C/T]GGAGCATGGCATTGT | 4867 |
rs146786808 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173051 | GCAATCTCCACCTCC[C/T]GGGTTCAAGCGATTC | 4867 |
rs146797626 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184055 | GAGAGATTCCTCTGC[C/T]GTGGAGTCTTACGAT | 4867 |
rs146943169 | snp | A/G | 0.152667 | 0.230274 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189452 | CCTCCCAGTGGGCTC[A/G]TGGTCTCGCTGACTT | 4867 |
rs146950221 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147526 | TAAACTCACTTTATA[A/G]AAGTCACTACTCTGC | 4867 |
rs146986419 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151248 | CACTAAGACAGACAG[A/T]CCTAATAGTTCAGAT | 4867 |
rs147090619 | snp | G/T | 7.00783e-05 | 0.00591897 | missense | NPHP1 | GRCh38.p7 | 2:110129209 | CATCCATCACATCAG[G/T]CTGCTCCAAGAGCAT | 4867 |
rs147207170 | snp | A/T | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163633 | TTACTTATGAGTTTG[A/T]GGAAGAGAATTTTCA | 4867 |
rs147223761 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158620 | TTTTTTTCTCTTAAG[C/T]TACCTATAGCATAAT | 4867 |
rs147257974 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157853 | TAATTTCACATTGAC[C/T]GTTATCAGCTCAAGC | 4867 |
rs147364562 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135908 | TGTGACCACTGTGAT[A/G]AGGTGACAGCAATGG | 4867 |
rs147420771 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204525 | AAGTGGAGGAGAGGA[A/G]CTAGGCTCAGAGTTG | 4867 |
rs147525560 | snp | A/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185641 | CTGGTCACTCCGCTA[A/T]CAATGCCCCCTGACT | 4867 |
rs147541387 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183460 | TATAATCTATAGAAA[C/T]AATACTTATCACTGG | 4867 |
rs147586421 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151665 | AAATCCCACTTCCTT[C/T]GATTGCTAATATATA | 4867 |
rs147623177 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155716 | TTGGCCAGTTTATCC[C/T]ATTTGGAATGGCTGC | 4867 |
rs147685347 | in-del | -/A | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138317 | TATAATAAAAAAAAA[-/A]GTTTCATGGAATTAA | 4867 |
rs147690402 | snp | C/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129414 | GGAGAGCTCAAAGCT[C/G]TCCCTTCAACCTTCA | 4867 |
rs147832939 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196323 | GAAAAAAACAAACGA[C/T]GCCATCAAAAAGTGG | 4867 |
rs147901925 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173227 | CAGGCGTGAGCCACC[A/G]CACCTGGCCACATGC | 4867 |
rs147938850 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177781 | ACAGTGTCTCACTCC[A/G]TTGCCCAGGCTGTGC | 4867 |
rs147945200 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131992 | TTTGTTTACACTTTC[A/G]AGTCTCAACCCTGTG | 4867 |
rs147945403 | snp | C/T | 0.000330978 | 0.01286 | missense | NPHP1 | GRCh38.p7 | 2:110144503 | CATACCTCTTCTGGA[C/T]ATTGAAGGGTCCACT | 4867 |
rs147962559 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128487 | CCTTCTACCTGCAAC[A/G]TCTTCACCCCCATCT | 4867 |
rs147972112 | snp | C/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192479 | ATAAAAAGAAACAAA[C/G]AAAGCCTCCAAGAAA | 4867 |
rs147974574 | in-del | -/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110179444 | AGTTGGAGCCCTGGA[-/T]TTTTGCTTTGCTCCC | 4867 |
rs148010968 | snp | G/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181452 | CTGGCTGCCATATTT[G/T]CTGTTTTGCAGCCTT | 4867 |
rs148014935 | snp | A/C | 1.66291e-05 | 0.00288345 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110163124 | AGTTAACACATCAAC[A/C]GTGTTTATCTGCTGA | 4867 |
rs148060713 | snp | A/C | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139308 | AAGTCAAATTCAGGG[A/C]TTTCCCTCCTCAGGG | 4867 |
rs148062532 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174340 | AAATCACGTTTAGTA[C/T]TCCATTTTATTGTGT | 4867 |
rs148112800 | snp | C/T | 1.65592e-05 | 0.00287738 | missense | NPHP1 | GRCh38.p7 | 2:110163086 | GTGGAAGGCCTGAAC[C/T]CTGCAGGAATAGCTC | 4867 |
rs148266770 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167472 | TGATGGGGTTCCAGG[A/G]ACTTCCAGGATGGTG | 4867 |
rs148319083 | snp | C/T | 0.00341296 | 0.0411683 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202525 | TATCAAAACAAACTT[C/T]CCAGATAGTCAAGGT | 4867 |
rs148376388 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197221 | GATCTGTCCAGTAAA[C/T]CAGTATGGCACACGT | 4867 |
rs148424440 | snp | A/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164214 | GCTAATTTTTCTTAT[A/T]TTTTGTAGGATAGGG | 4867 |
rs148500287 | snp | G/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154900 | AAATTCAAGCCGGCT[G/T]CAGAAATTCGCATAG | 4867 |
rs148581900 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170738 | AGAGGGACACCTAAC[C/T]CAGGTTGCACGAATG | 4867 |
rs148634613 | snp | C/T | 0.00119737 | 0.0244387 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206268 | CACAGGCATGTTATA[C/T]GTCAGCTTTAGTAGA | 4867 |
rs148657444 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110158718 | TCCCTGATGACTTCT[C/T]ACATGTTGACTATCT | 4867 |
rs148704263 | snp | A/G | 0.132066 | 0.220435 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194793 | ATCCAGCAGCACATC[A/G]AAAAGCCTATCCACC | 4867 |
rs148763231 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189816 | ACAAAGGTTCTCCAA[A/G]TCCCCACCAGAGTAG | 4867 |
rs148791805 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126220 | CCACAGAAGTATGAA[C/T]TTAAGACTTTCACTG | 4867 |
rs148800005 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110142589 | ACTCCTGGCCTCAAG[C/T]GATTCTACCACCTCC | 4867 |
rs148809478 | snp | A/G | 0.000115677 | 0.00760427 | synonymous-codon | NPHP1 | GRCh38.p7 | 2:110143637 | GTAGAAAACACTGCC[A/G]TGTGCTTTTAAGAAA | 4867 |
rs148812644 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156267 | GCACTGTTCTCATGA[C/T]GGTGAATGATTCTCA | 4867 |
rs148970287 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162791 | TAAAGACACAGGAAA[A/G]GGCTGAAAATTAAAG | 4867 |
rs149022651 | snp | A/C | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197063 | ATGTTCTCACTTATA[A/C]GTGGGAGCTGAATGA | 4867 |
rs149062166 | in-del | -/CAT | 0.0356815 | 0.128715 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166392 | CCAGTTAAAAGACTA[-/CAT]CATTTCCCAAGACTT | 4867 |
rs149074505 | snp | A/T | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191469 | GCGAGGCTGTTTGTT[A/T]GCCATTGCCGAGGCT | 4867 |
rs149123600 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146343 | TTTAAATCATTTACC[A/G]TGGTTGCCACTGTGA | 4867 |
rs149144056 | snp | A/G | 0.0138799 | 0.0821421 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174029 | GATATTATTGTAACC[A/G]TATCACCTTTGTTTT | 4867 |
rs149160337 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132524 | GCCAGGTTTGGTGGC[A/G]GGCACCTGTAATCCC | 4867 |
rs149177270 | snp | G/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183902 | TTGATCAAGTAATCG[G/T]AAATAAAATATTCCT | 4867 |
rs149296407 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163796 | CTCCCCAGGAGCTGG[A/G]ACTACAGACATGCGC | 4867 |
rs149304116 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180683 | AGAATGTAGAAAAGC[C/T]AGGGAACAAGGGGAA | 4867 |
rs149349302 | snp | C/T | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199222 | TGGATCACCTGAAGT[C/T]GGGAGTTTGAGAGCA | 4867 |
rs149355005 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130091 | GGGTGAGACGAATTC[C/T]CTTGTCAAGCCCTTC | 4867 |
rs149386303 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153940 | GTGAACTGAGATTGC[A/G]CCATTGCACTCCAGC | 4867 |
rs149439106 | snp | A/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148791 | AAAGACTGAATACAC[A/T]TATTTGCTCAACTTT | 4867 |
rs149492219 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110185210 | TCTTCACCTCTCTCT[A/G]AAGTTAACTCCACTT | 4867 |
rs149560489 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157751 | TCTAAGTTATCATCA[A/C]CACCTCTCATCCAGA | 4867 |
rs149649565 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189488 | GTGAAGCTGCAGACC[C/T]TCGCGGTGAGTGTTA | 4867 |
rs149661359 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201350 | AAAGGACCAATCTCT[A/G]TGCCTTAAATACTAT | 4867 |
rs149736086 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150501 | TTCCTTAATATCTGA[A/G]ATAGGTTTGCCAGAA | 4867 |
rs149789366 | snp | A/C/T | 0.0138919 | 0.0822848 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187753 | CTTCATGAACATCGA[A/C/T]ACAAAAATCCGCAAC | 4867 |
rs149817816 | snp | C/T | 1.65872e-05 | 0.00287981 | missense | NPHP1 | GRCh38.p7 | 2:110169922 | CCTCTTCCTCCTCTG[C/T]ATCTTCTTCCTCCCC | 4867 |
rs149875988 | snp | A/G | 0.0271762 | 0.113356 | intron-variant | NPHP1 | GRCh38.p7 | 2:110124596 | TCACAGATAAGAATG[A/G]TGCAGCATCAGCTGT | 4867 |
rs149879941 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176309 | AGAATGTTCATTTGA[C/T]TTTTCTATATTTGAA | 4867 |
rs149887461 | snp | C/T | 0.00123537 | 0.0248226 | missense | NPHP1 | GRCh38.p7 | 2:110143602 | AGAAGTTGAGGCTGC[C/T]TTCTCATTGTCATAA | 4867 |
rs149949432 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191371 | CAGGAGATTACATCG[C/T]GCACATGGCTCAGAG | 4867 |
rs150037948 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183624 | TAGGGTCTCCATGAC[C/T]GAGCTGGTCTCGGCA | 4867 |
rs150098708 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148373 | GCTGAGCAGATGCCT[A/G]TGCCATGCTTCCTGT | 4867 |
rs150203608 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110179298 | TGCATTATTTCCCCA[C/T]AAAGAAATTAAAATA | 4867 |
rs150259301 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193250 | CATCAGTGTGTTGTA[C/T]TCAGGAAACCCATCT | 4867 |
rs150361438 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184656 | CTCTACCTGCATAAG[A/G]AGGGCTATGATTTCC | 4867 |
rs150397777 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173746 | ATGTTTGTACAATGA[A/T]GAAATCACTTAATGA | 4867 |
rs150433364 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203973 | AGAATAAAGAAAATC[A/T]TAATAATCATCAGCA | 4867 |
rs150450280 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166338 | CTACCACCTATTCCC[C/T]ACCTCCTTTTTCAAA | 4867 |
rs150475906 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153016 | CATGCCAGATACACC[A/G]TAAACTTCTGAAAAC | 4867 |
rs150516452 | snp | A/G | 0.0279526 | 0.114869 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183293 | TGGCCCACCCAGGGC[A/G]GAAAACTGCTTAAAG | 4867 |
rs150520157 | snp | A/C | 0.000148443 | 0.0086139 | splice-donor-variant, intron-variant | NPHP1 | GRCh38.p7 | 2:110164519 | TAATGAGAAATGTTA[A/C]TTGGAGCACAGGCTT | 4867 |
rs150539809 | snp | A/C | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131187 | CATTTTACTTGGTAA[A/C]AATTTCAAACGTACA | 4867 |
rs150558683 | snp | A/G | 0.00398564 | 0.0444627 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123541 | CCATTAACTTAAGTA[A/G]CTGTTTTTGAAAAAA | 4867 |
rs150630119 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198990 | GCCCAGAGAAAGCAA[A/C]GACAATTCAGAGAAC | 4867 |
rs150674195 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186604 | CATGACCCACCCCAA[C/T]CCCAGACTCCATGCA | 4867 |
rs150749508 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175629 | CTTGGCAGCTTTTAA[A/G]ATCTCCTATTTATCT | 4867 |
rs150801549 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110167541 | GTGCATGCCAGCCAC[C/T]CCCAACCAATACCTC | 4867 |
rs150891335 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143357 | AAGAGCTAACTAGTA[A/G]ATAGAAGAGTAAGCT | 4867 |
rs150945694 | in-del | -/GGGTTT | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110141334 | TGTAAATACTGGCTG[-/GGGTTT]TTTTATGTATTTTCT | 4867 |
rs150955349 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110201172 | GTCACAGGATCTGGG[C/T]TACATAGGCTAAGGA | 4867 |
rs151023916 | snp | C/T | 0.47743 | 0.103805 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193413 | AAGAGACAAAGAAGG[C/T]CATTACATAATGGTA | 4867 |
rs151063879 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178958 | ACAGAAATAATTAGG[C/T]TTTCAAACAGTCTAA | 4867 |
rs151120697 | snp | C/T | 8.24069e-05 | 0.00641846 | synonymous-codon, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123818 | CTTTCTCATTTCACC[C/T]AAGAAGTCATAGGTC | 4867 |
rs151123098 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172550 | CTTTGGGAGGCTGAG[A/G]TGGGAGGATTGCATA | 4867 |
rs151166300 | snp | A/G | 0.00517822 | 0.0506191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161203 | CTACTACTATAAATG[A/G]TAATAATGGCTAACA | 4867 |
rs151204566 | snp | A/G | 0.00417046 | 0.0454735 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146839 | TTCACCAGTTGACTA[A/G]GAAATAAGACAAGTA | 4867 |
rs151255429 | snp | G/T | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149573 | GATCTTTTGATGCAA[G/T]AAGAGGAAAGGTAAC | 4867 |
rs151280261 | snp | G/T | 0.0142736 | 0.0832652 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132732 | GTAAGGGCTAAAAAA[G/T]AGAAAATAATTCAAC | 4867 |
rs180714505 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191914 | TCTGGAGTGGACCTC[C/T]GGCAAACTCCAACAG | 4867 |
rs180955763 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110156651 | ACTTTGCCCAGAGTT[C/T]ACAATTACCCTCTCT | 4867 |
rs180980881 | snp | A/G | 0.00597247 | 0.0543191 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134088 | CTCTGTTCTTTGAAA[A/G]GATGAACAAAATTGA | 4867 |
rs180995529 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175414 | GTTGACAAATTTTCT[C/T]AGCTTTTGTTTGCCT | 4867 |
rs181124301 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138820 | CCCTCTCCTTTTCTC[A/G]TAGACCTGCCTGCTT | 4867 |
rs181124720 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160481 | ATTTTTCTTAAATAC[G/T]TAAAAGCTGTGATGA | 4867 |
rs181162717 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152135 | CAAAATAATTTACAG[A/G]GATTTCGTTCAGCAA | 4867 |
rs181167884 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171161 | GGAGGTGAATCTGAG[A/G]GTGAGGAAGAGAGAA | 4867 |
rs181177868 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110191535 | TGGGTGGAGCCCACC[A/G]CAGCTCAAGGAGGCC | 4867 |
rs181279975 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155625 | GACATGGAGTCAAAG[C/G]AGATCATTTTGGAGC | 4867 |
rs181281351 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133866 | CCAAAATTTACAAGA[C/T]ACAGTGAAAACAGTC | 4867 |
rs181297295 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174868 | GGCTCCCAAACATAG[C/T]GCTGAAGAGCCATGT | 4867 |
rs181398819 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125048 | GTCATTTACATATTG[A/T]CTGTGGCTGCTTTTG | 4867 |
rs181408700 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166181 | TAACTTTTCTAAAAG[A/G]CAAATTGGAAAAATA | 4867 |
rs181513045 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204160 | CCTAGGTGCATACAC[A/C]TATGTTACACCTTGT | 4867 |
rs181527458 | snp | A/T | 1.71255e-05 | 0.00292617 | intron-variant | NPHP1 | GRCh38.p7 | 2:110144600 | ATACAATGACAGATA[A/T]AAGCTGTGGGCATGT | 4867 |
rs181555041 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188213 | TTCAAATAGGAAGAG[A/G]GGAACTCAAATTATC | 4867 |
rs181603313 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161951 | GGCCAATAATATGCC[C/G]CATGATGACAAGGAT | 4867 |
rs181606323 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182468 | CCCTATAAGCCAGCA[A/G]AGACTGGGGACCAAT | 4867 |
rs181613523 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199608 | AGCCTGAACGACAGA[A/G]TGAGACCCCCCACAT | 4867 |
rs181799298 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150570 | ATTTATTTGTTTAGA[A/G]AAGGAGTCTCGCTCT | 4867 |
rs181813417 | snp | C/G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191187 | AAAGTGGGTGCAGCA[C/G/T]ACCGAGCATGAGCTG | 4867 |
rs181890768 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165452 | TCAAAATAAATTCCA[C/G]ATGGAATTTACTTAA | 4867 |
rs181893508 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134768 | TGATGCTGAGAAAGC[C/G]TAAAATTTGACACCC | 4867 |
rs181900706 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187407 | TATGCACATGAACTA[A/G]AAAATCTAGAAGAAA | 4867 |
rs181905883 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157210 | AAATTTCTTTCATAA[A/T]GTAAATTTCATTATT | 4867 |
rs181906816 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203779 | TTTTCTTATTTTTAA[C/T]AAGAACTCAGTGTAT | 4867 |
rs181956058 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143728 | TTTCATGAAAATATA[C/T]CACCCAGTAGTGCTG | 4867 |
rs182011916 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110139132 | ATTTATTTTTAGCAA[C/T]GATATAATGAAAGTA | 4867 |
rs182017162 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161130 | ATGATCACACCACTG[C/T]CCTCTAGCCTGGGTG | 4867 |
rs182070385 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170562 | CTGTAGGTCAAGTTC[C/T]GTGTCAGAGAGATAC | 4867 |
rs182079703 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176172 | AATTCTCACATCTCC[A/G]AGCTACTGATTATTT | 4867 |
rs182084275 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141377 | TCATTACACCTTTAT[G/T]GGGTTGATATTATTA | 4867 |
rs182098150 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163432 | CCTGCTCCACCCTGC[A/G]CTTCCATTTCACAGG | 4867 |
rs182103218 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183647 | TCTCGGCAACCCAGA[C/T]TCATACAGCAAGTTC | 4867 |
rs182105786 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200619 | CATAAAATTTAAAAA[C/T]GTAGTTTTCCCTTGG | 4867 |
rs182213082 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145370 | AAAACTGCTCACTGC[A/C]GTCTCGACCTCTCAG | 4867 |
rs182217614 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166638 | GGATAAAATACTGGA[G/T]AGGATCTTAACCAAT | 4867 |
rs182222668 | snp | A/G | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188780 | CTAAAACAGCATGGT[A/G]CTGGTAAAAGAACAG | 4867 |
rs182228801 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205511 | TTCTACAGCAAATCT[A/G]TGAGCAAATTATTAG | 4867 |
rs182232373 | snp | C/T | 0.000399281 | 0.0141238 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123862 | CAAAAGGTTCATGAA[C/T]TCCGTCTGGTGACAG | 4867 |
rs182254757 | snp | A/C | 0.00676609 | 0.0577691 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198602 | CTAAAAACAAAAAAA[A/C]AAACAAAAACAATTA | 4867 |
rs182389674 | snp | A/G | 0.282105 | 0.24793 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194255 | CAAAATTGATAAACC[A/G]CTAGCAAGACTAATA | 4867 |
rs182523698 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181621 | TAAAAACTCAACAAA[A/C]ATCCTATTTAAAGGT | 4867 |
rs182540642 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152775 | GAACTCTAAACTCTA[A/C/T]GTCAAGATCTGGTTC | 4867 |
rs182593338 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172600 | AGCCTGAGCAATATA[A/G]TGAGACCCTGCCTCT | 4867 |
rs182599523 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158223 | TTCTGACCCAGGACC[A/G]TCTATATTGGTGACT | 4867 |
rs182600020 | snp | A/C | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192493 | ACAAAGCCTCCAAGA[A/C]ATATGGGACTATGTG | 4867 |
rs182622412 | snp | C/G | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195514 | AAAAGAGGATACAAA[C/G]AAATGGAAGAACATT | 4867 |
rs182676387 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132231 | AGACCTGGAATAAGT[C/G]CTGACTTTGTCACTT | 4867 |
rs182676483 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154757 | AGAAATTTCTAAGTA[A/G]CAAAGCACTCAAGAC | 4867 |
rs182806884 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135713 | TTACAAATGATATGT[C/T]GTCTTCTATCAAAAG | 4867 |
rs182864764 | snp | C/T | 0.0955749 | 0.196603 | intron-variant | NPHP1 | GRCh38.p7 | 2:110136104 | AGATGCAGAAAAGGC[C/T]TTTGACAAAATTCAA | 4867 |
rs182891391 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177942 | AGATGGGGTCCACTG[C/T]ATTGCCCAGGCTGGT | 4867 |
rs182896362 | snp | A/C | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126524 | TTTGGAATGTTCATA[A/C]CTATTACCACGTGAG | 4867 |
rs182903244 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157815 | TAACATCACTCTGAT[A/T]ACTTCCCTTACATTA | 4867 |
rs182913034 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176781 | TGAAACATTTCCCAA[A/G]TCTCTTTACTAGAAC | 4867 |
rs182916832 | snp | A/G | 0.0379877 | 0.132479 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194427 | ATGGATAAATTCCTC[A/G]ACAAATACACCCTCC | 4867 |
rs182917380 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164275 | TTCCTGGCCTCAAGT[A/G]ATCCTCCTGCTTCAG | 4867 |
rs182920267 | snp | G/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110193067 | ATGCCAGATTGTGAA[G/T]ACCATCGAGGCTAGG | 4867 |
rs182966439 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141195 | TACACATCTTCATTT[A/G]AACAAATTTTATGAT | 4867 |
rs182985848 | snp | A/C | 0.0189856 | 0.0955633 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183386 | AGATAACTAGCCAGA[A/C]CCTCCCCTTTATTTC | 4867 |
rs183017302 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184307 | TGTCAAGGACTGGAA[C/T]GACATGGAACACATC | 4867 |
rs183026703 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202543 | AGATAGTCAAGGTAT[C/G]AAAAGGCTCCAGAGC | 4867 |
rs183042675 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131148 | ATGTATGGTGACTCA[C/T]TGATTTTTAAACTTA | 4867 |
rs183158913 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189419 | GCTCTTAAGGCGGCA[C/T]GTCTGGAGTTGTTCA | 4867 |
rs183161710 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206265 | AGTCACAGGCATGTT[A/G]TACGTCAGCTTTAGT | 4867 |
rs183174015 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200436 | GGTGTGGTGGGGCAC[A/G]ACTGTAATCCCAACT | 4867 |
rs183261361 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162832 | TTTGAAAAAAAGAAA[C/G]GGGCTGGAACCCGGA | 4867 |
rs183307068 | snp | C/T | 3.36814e-05 | 0.0041036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168598 | AATAAAATTCAATAA[C/T]CATGAGTATATGTCA | 4867 |
rs183442271 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154561 | ACAAAAATGCTGATA[C/G]TGATATGAACAATAA | 4867 |
rs183474996 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192209 | TGATCAAACTTCTCC[C/G]AGCTAAAGGAGGAAG | 4867 |
rs183540133 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110147756 | TGCTACGAAAACAAA[C/T]CAGCACACATAAAAT | 4867 |
rs183551945 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190003 | GTAGCTAGATACAGA[A/G]TGTCAATTGGTGCAT | 4867 |
rs183601777 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165319 | AAAATCTTGAGCATA[C/G]ATGGGAATTTAGTAT | 4867 |
rs183618425 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203680 | ATTTTACTCAGTGGA[A/G]AAATACTTGGTAATA | 4867 |
rs183683322 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143213 | AAGAGTAAATTTTAC[C/T]GCATGTAAATTATAT | 4867 |
rs183707188 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172207 | ATAGTCTTTTCATAG[C/T]ATCTTTTTAATGCTT | 4867 |
rs183710194 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141701 | GGTAGGGCCGGATGC[A/G]GTGGCTCAAGCCTGT | 4867 |
rs183824000 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127109 | TGTGAGCAGAAGTGG[C/T]CCAGGCCCCTTTGAA | 4867 |
rs183838966 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149225 | ATGAAAAAGTTTCCA[C/T]GTGCCTAGGAAAAAA | 4867 |
rs183847076 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110145930 | TCTGCCAATGTGGCA[A/G]GAGGCCACATAAGGC | 4867 |
rs183920134 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110133938 | AAGAAGGAAGAGCTC[A/T]AGTCAACAACCTAAC | 4867 |
rs183929981 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168893 | TAAAATATTTTTGAA[C/T]GTTTTAATATCTCTG | 4867 |
rs183935695 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155806 | TACAGGCTCATAGGC[A/G]GAAGAGACTTGCCTT | 4867 |
rs183942564 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175239 | TTTTGCTTTACATAA[C/T]TGAGTGTCTTTCAAA | 4867 |
rs183982335 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195978 | GAAACTGGATGCCTT[A/C]CTTACACCTTATACA | 4867 |
rs184032621 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125971 | TCCATGAAAACTATA[A/C]AACCACAGCACCTGA | 4867 |
rs184034112 | snp | C/G | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193637 | TCCAGGAATTGAACT[C/G]AGCTCTGCACCAAGT | 4867 |
rs184038386 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129353 | AGATGAAAATTATTG[A/T]GCCAAATGATTTGTT | 4867 |
rs184049383 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168082 | AATACAAGCTACAAA[C/G]ACACATGTATAGTAT | 4867 |
rs184168053 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132810 | GGATGTTGTATGCAA[C/T]ACCAAGTTAAGTTGG | 4867 |
rs184175195 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197495 | CTCCACTGCAGGCAG[C/G]GTGAGCAGGGGGCCC | 4867 |
rs184194400 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173191 | TCTATCTCTTGACCT[C/T]GTGATTCGCCCGCCT | 4867 |
rs184242676 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110159376 | TCTTCTTTAAATGTT[G/T]GAAGAAATTCACAGG | 4867 |
rs184245609 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180378 | GCTATAGCTCATGAT[G/T]AGATTTTTTTAATTC | 4867 |
rs184330060 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154910 | CGGCTGCAGAAATTC[A/G]CATAGGTAACAAGGA | 4867 |
rs184374484 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133189 | GACTTAGGACACTCA[C/T]GGGTAGAAAGTGAAA | 4867 |
rs184477881 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173825 | ATGTAATTAGATCAC[A/G]GTGGTTAAGGATTGT | 4867 |
rs184525093 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160926 | AATCCTAGCACTTTG[A/G]GAGGGATAGGAGGGC | 4867 |
rs184534958 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198104 | AGAAGGACAACTAGC[A/C]AGCAAGAGATTTCAA | 4867 |
rs184619134 | snp | C/T | 0.0221141 | 0.102801 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138048 | GATGAAGCTGGAAAC[C/T]ATCATTCTCAGCAAA | 4867 |
rs184619404 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158420 | AACTATAATAGAGGC[A/C]CCAACTATAATTGTG | 4867 |
rs184631906 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110178299 | CAATAAATAAATGTT[A/G]ACTGATTCTATTGTT | 4867 |
rs184639438 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138821 | CCTCTCCTTTTCTCG[C/T]AGACCTGCCTGCTTT | 4867 |
rs184658245 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110180982 | GGGGATATCCATCTG[C/T]ATATATCCCTAGAAA | 4867 |
rs184665169 | snp | A/C/T | 0.0193772 | 0.0965046 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141796 | GCCAACATGGTGAAA[A/C/T]CCTGTCTCTACTAAA | 4867 |
rs184676995 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110185957 | CCGTTCTTGTTGCAA[A/T]GCCATCTTCAAACAG | 4867 |
rs184810717 | snp | A/G | 1.64879e-05 | 0.00287118 | missense, intron-variant | NPHP1 | GRCh38.p7 | 2:110164525 | GAAATGTTACTTGGA[A/G]CACAGGCTTAGAAAC | 4867 |
rs184823994 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203012 | AATAGCAAAGACATG[C/G]AATCAACATAGATGC | 4867 |
rs184898296 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110125762 | ATTTACTCTGTAAAT[A/T]AACTTATGGACAGGG | 4867 |
rs184916447 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145491 | GACAGGGTCTCACCA[C/T]GTTGCCCAGGCTGGT | 4867 |
rs184920184 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166761 | CAGTGGATGCTAATC[C/T]CATGTTCTTTGCAAC | 4867 |
rs184991101 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170947 | GAGGTACGCGGAATG[C/T]AGCCCAGGTGAGCTT | 4867 |
rs185034649 | snp | C/T | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188945 | AGCTGGCTAGCTATA[C/T]GCAGAAAATTGAAAC | 4867 |
rs185039050 | snp | A/G | 0.0107246 | 0.0724382 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110205725 | CTTCAGAACAGCCAC[A/G]GGCCAGGATGAACCA | 4867 |
rs185047698 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138559 | GGGACCATTTCAGCT[A/G]CCTCAGTGTCACCAC | 4867 |
rs185105446 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191432 | CTAGCACAGCAGTCT[A/G]AGATCAAACTGCAAG | 4867 |
rs185174324 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191545 | CCACCGCAGCTCAAG[A/G]AGGCCTGCCTGCCTC | 4867 |
rs185251179 | snp | A/G | 0.000345967 | 0.0131478 | intron-variant | NPHP1 | GRCh38.p7 | 2:110129280 | ATGCAAAACAACAGA[A/G]AGAATTTTATGCAAA | 4867 |
rs185253204 | snp | A/G | 0.0111196 | 0.0737302 | intron-variant | NPHP1 | GRCh38.p7 | 2:110152186 | GGGGCTGGGTGCAGT[A/G]GCTCGTGCCTGTAGT | 4867 |
rs185266277 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171180 | AGGAAGAGAGAAATG[C/T]CAAAATAATGTTAGC | 4867 |
rs185406880 | snp | C/T | 0.000124309 | 0.00788282 | intron-variant, splice-donor-variant, missense | NPHP1 | GRCh38.p7 | 2:110125218 | TCGGATTGGTAATTA[C/T]CATGATTTTATAGCA | 4867 |
rs185491159 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149871 | GAAGAAAGCACAGCT[A/T]TTATTAGCACAGTTG | 4867 |
rs185497667 | snp | A/C/T | 0.00398755 | 0.0445055 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191034 | AAGGAACACTTGGGG[A/C/T]GGTTCCAAGATGGCC | 4867 |
rs185525639 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110145054 | ATCCCTCCCCATGCC[A/G]CCTTCTCTAGTGTGG | 4867 |
rs185610388 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127507 | CAGAGATATTCACCA[A/G]TACCTCTCTGGAATA | 4867 |
rs185624952 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170074 | GAGTGTAACTTCTAC[A/G]TATACATGAATATCC | 4867 |
rs185670962 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110150802 | TGATCTGCCTGCCTC[A/G]GCCTCCCAAAGTGCT | 4867 |
rs185756046 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110134362 | AAAAATCTCCTGATA[A/C]AGAAAAGCCCAGCAT | 4867 |
rs185759158 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127990 | TAGGAGAAGAAAGAG[A/C]AATTCTGCATTATCT | 4867 |
rs185783442 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175427 | CTCAGCTTTTGTTTG[C/T]CTGAAAATGTCTTTA | 4867 |
rs185899710 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110156765 | TTTTGTGTGTGTGTA[C/T]GTGTTTTGGTTTCTG | 4867 |
rs185922149 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193959 | GTTCTTTGAAACCAA[C/T]GAGAACAAAGCCACA | 4867 |
rs185939194 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182767 | CAGCTAGAATAATGA[G/T]GATAGGATCAAACTC | 4867 |
rs185945974 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110199731 | ACCTGACTCAAAGGT[A/G]TTTCAGGAAGAAACA | 4867 |
rs186077875 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110200438 | TGTGGTGGGGCACGA[C/T]TGTAATCCCAACTAC | 4867 |
rs186193018 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110176343 | AATACACCCATTTCC[A/C]ATTTCATTCATCTTT | 4867 |
rs186199943 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183447 | CTTTTAGTAAATCTA[C/T]AATCTATAGAAACAA | 4867 |
rs186202131 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194284 | TAAAGAAGAAAAGAG[A/G]GAAGAATCAAATAGA | 4867 |
rs186283225 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135578 | ACAAGATTTAACCTT[C/T]GAAAGTACTCAAGAA | 4867 |
rs186283537 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157604 | CATCCATCCAGATGC[A/G]GAAGTCAGAGACTAG | 4867 |
rs186284509 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204080 | ATGAATACTTTTATA[C/T]ATCAATCTCTGTCCT | 4867 |
rs186391103 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110139232 | ACACACACACACACA[C/T]GCAACCTACTTCTCC | 4867 |
rs186409628 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110188245 | CTGTTTGCAGATGAC[A/G]TGATCCTATATCTAG | 4867 |
rs186486457 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182207 | ACCACGTTGAAAAAC[A/G]TACTTTAGAATATCA | 4867 |
rs186489106 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198652 | TCATGACTGCTAAAG[A/G]AGTTTCCCATACACC | 4867 |
rs186560921 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110140099 | AGCTGGTTTCTGTGC[A/G]AGCCAGCCTGGAGTT | 4867 |
rs186617182 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110166342 | CACCTATTCCCCACC[A/T]CCTTTTTCAAACAAA | 4867 |
rs186645192 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110204608 | TGAGTTGTTAGGGTA[A/G]GAGGTTGAGACGTTA | 4867 |
rs186784146 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190731 | GAGCGAGGGCTGTGA[A/G]GACTGCCAGCATGCT | 4867 |
rs186795025 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110162268 | TAGAAAATAAGTAGA[C/G]AAGCAAATAAATAAA | 4867 |
rs186909217 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154871 | TAGAAAAGAAAATCA[C/T]ATTTTCTGAGGAGAA | 4867 |
rs186923925 | snp | A/C | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110173038 | ATCTTGGCTCACTGC[A/C]ATCTCCACCTCCCGG | 4867 |
rs186929895 | snp | A/T | 0.0023933 | 0.0345097 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192505 | AGAAATATGGGACTA[A/T]GTGAAAAGATCAAAT | 4867 |
rs186950965 | snp | C/T | 0.000658707 | 0.0181361 | missense, utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123912 | TGGTTTTCTTGGTTT[C/T]GCTTAAGGAAGTCAG | 4867 |
rs186964046 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165584 | TCAAAAATCATAAGT[A/G]GAAACACTGACAGAT | 4867 |
rs187146435 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110143746 | CCCAGTAGTGCTGAA[C/T]TGAATGAAAGGCAAG | 4867 |
rs187164831 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187474 | TGAACCAGGAAGAAA[C/T]TGAATCCCTGAACAG | 4867 |
rs187179710 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168709 | GCTTCCCTATCACCC[A/G]ACCCCTATGTATTCT | 4867 |
rs187244249 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126581 | CTGCTGTGCTATGGG[G/T]CCTTAGGAGTTTGAA | 4867 |
rs187247157 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110177287 | TCAGTACTAAGAATC[A/G]GTGGAAATTCTAGAT | 4867 |
rs187252760 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110148137 | TGAATTGTAATCCCA[A/G]TGTTGAAGGTGAGGC | 4867 |
rs187257871 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110194927 | GATTATCTCAATAGA[C/T]GCAGAAAAGGCCTTT | 4867 |
rs187272169 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110153201 | ACTGTCAACTCAGAA[C/T]TCTCTATCTAATTAA | 4867 |
rs187300309 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192116 | TCTCCTCCTTCAAAG[A/G]ATTGCAGCTCCTCAC | 4867 |
rs187354377 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110202702 | ATCATCAGAGAAATG[C/T]AAATTAAAACTACAA | 4867 |
rs187378794 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110131443 | GGATCTCAAAACTCT[A/G]GAATTTGAAATGTGA | 4867 |
rs187391611 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154625 | GGAACTTGTTGGGCA[C/G]TGGAGAAAAGGTGAC | 4867 |
rs187439335 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110130049 | AGAGGGGAGGAACAC[C/T]GTGCCATCACGTGGC | 4867 |
rs187478008 | snp | C/T | 0.00795532 | 0.062565 | intron-variant | NPHP1 | GRCh38.p7 | 2:110172231 | AATGCTTGTGGAATC[C/T]GTATTGATTTTTTTT | 4867 |
rs187485873 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158845 | ATATCTTTGACTTGT[C/T]CCTGGTCTTAGGAAA | 4867 |
rs187486867 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138283 | ATATGTAACTAACCT[A/G]CACGTTCTGCACATG | 4867 |
rs187498265 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171853 | TTGTGCATGTGTTCA[C/T]GAGGGCCTTGCAATT | 4867 |
rs187599195 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | NPHP1 | GRCh38.p7 | 2:110196374 | CTTCTCAAAAGAAGA[C/T]ATTTATGCAGCCAAA | 4867 |
rs187699241 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110132627 | CCACTGCACTCCAAC[C/T]TGGGTGACACAGCAA | 4867 |
rs187764806 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110200678 | CTGTTTTTAAATCTA[A/G]TAAAGCAAGAACAAT | 4867 |
rs187829331 | snp | G/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110158258 | CATATGTACTTAAGA[G/T]AAAGTGTATTTTACT | 4867 |
rs187830453 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141690 | GAAAACAGTTTGGTA[A/G]GGCCGGATGCGGTGG | 4867 |
rs187841518 | snp | A/C | 0.031825 | 0.122064 | intron-variant | NPHP1 | GRCh38.p7 | 2:110195578 | AAAATGACCATACTG[A/C]CCAAGGTAATTTATA | 4867 |
rs187848669 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163809 | GGGACTACAGACATG[C/T]GCTACCACGCCCAGC | 4867 |
rs187848982 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110183780 | AGATATTCAGGACCT[G/T]AACTCAGCTCTGGAT | 4867 |
rs187992096 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110190351 | AGGCTCAGGCATGGC[A/G]GGCTGAAGGTCCCGA | 4867 |
rs188058090 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110157908 | TTTGACTGTAGATTT[C/G]AGAATTCTTTTCTAA | 4867 |
rs188258790 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | NPHP1 | GRCh38.p7 | 2:110149564 | TTGCCTTAAGATCTT[C/T]TGATGCAATAAGAGG | 4867 |
rs188264668 | snp | A/G | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168947 | ATATAAATTCCCAAA[A/G]AATATCAATTCCATT | 4867 |
rs188280521 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110138898 | GGCACTTTCTCACAA[C/T]ATGAAGCAATGCTGC | 4867 |
rs188335995 | snp | A/G | 0.0209421 | 0.100162 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141755 | AGGTGGGCGGATCAC[A/G]AGGTCAGGAGTTCGA | 4867 |
rs188336758 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110135802 | GTAAATTAATCCTTT[A/C]TCTTAATTCCTAAGA | 4867 |
rs188359011 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110184939 | CCAGAAGTCAGACAT[A/G]GACCTGCAGTTCACA | 4867 |
rs188418881 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110175397 | TCTTATACTGCAGAT[C/T]AGTTGACAAATTTTC | 4867 |
rs188421416 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141865 | GTAGTCCCAGCTACT[C/T]GGTAGGCTGAGGCAG | 4867 |
rs188432283 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193712 | AATATACATTATTCT[C/T]AGCACCACACCACAC | 4867 |
rs188485673 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | NPHP1 | GRCh38.p7 | 2:110126157 | TCTGTCCACAGGGCT[C/T]CACAGAAATTTCCTC | 4867 |
rs188499922 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110168280 | GCACTTCACAGGTCC[C/T]CAGGACCATTAATAC | 4867 |
rs188514092 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | NPHP1 | GRCh38.p7 | 2:110206698 | AAGTTAATAGCATCA[C/T]GGATACAGTTTAATT | 4867 |
rs188561371 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | NPHP1 | GRCh38.p7 | 2:110128045 | CTAAAATTACAGGAG[A/G]TCATATGTACCATGA | 4867 |
rs188577521 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110197638 | TGGACTTTGTAACCA[C/T]GAGGAGAGACATCAC | 4867 |
rs188581482 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | NPHP1 | GRCh38.p7 | 2:110151802 | CTAAGGTTCTTCTTC[A/G]TTTTTCAAGAAATGT | 4867 |
rs188583626 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110170977 | TTACCTTTAAAGTCG[C/T]CCCTAAAAATGAGTA | 4867 |
rs188591276 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191478 | TTTGTTAGCCATTGC[C/T]GAGGCTTGAGTAGGT | 4867 |
rs188620783 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110192234 | AGGAAGTTCGAACCC[A/G]TGGAAAACAAGTTAA | 4867 |
rs188633241 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110164307 | TTCCCAAAATGTTGG[A/G]ATTACCAGTGTGAAT | 4867 |
rs188776866 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110154970 | AAAATGTCTCCAGAG[G/T]ATGTCAGAGGTCTTC | 4867 |
rs188777800 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110146220 | AAAATTTAGATGATC[C/T]TTTTCTTATTAATTT | 4867 |
rs188787142 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110189848 | TAGATATAGAGTGTC[A/G]ATGGGTGCATTCACA | 4867 |
rs188800639 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193076 | TGTGAAGACCATCGA[A/G]GCTAGGAAGAAACTG | 4867 |
rs188843131 | snp | C/T | 0.131723 | 0.220251 | intron-variant | NPHP1 | GRCh38.p7 | 2:110193460 | AAGAAGAGGTAACTA[C/T]CCTAAATATATATGC | 4867 |
rs188920216 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133298 | TCAAGCCCCCCAAAA[G/T]TTACAAGAGACAAAG | 4867 |
rs188920622 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110155305 | AGTTTGCTGCAGGGG[C/T]GGGGCTCTCATGGAG | 4867 |
rs188927449 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110174435 | ATCCCTAACTTATCA[C/T]AGTCTAATTTAAATA | 4867 |
rs189072319 | snp | C/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110173463 | ACACATATATAGTCA[C/T]GTGCTGCACAACAAT | 4867 |
rs189075013 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | NPHP1 | GRCh38.p7 | 2:110181431 | CAGAGCTTCCAGAGG[A/G]AGGAGCTGGCTGCCA | 4867 |
rs189144852 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133009 | ACAAAAAAAGCTATA[A/T]GATAAGCAGCAAATG | 4867 |
rs189320299 | snp | A/G | 6.59196e-05 | 0.00574068 | missense, splice-donor-variant | NPHP1 | GRCh38.p7 | 2:110164686 | AGACAGAAGATGCCC[A/G]CCTCTGAAATCGCTT | 4867 |
rs189349107 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | NPHP1 | GRCh38.p7 | 2:110161907 | ACACATAAAAGATCA[C/T]CTTAAAGCACCTTTA | 4867 |
rs189349286 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110182223 | TACTTTAGAATATCA[C/T]ACAGAAGAATTCCCC | 4867 |
rs189364450 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198658 | CTGCTAAAGAAGTTT[C/T]CCATACACCAGGGTT | 4867 |
rs189371137 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110198392 | TAAATCATATGCATA[C/T]ATCTAAGCTTTGAGG | 4867 |
rs189427194 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110127432 | TTTTTTAAAATTATC[A/G]TAACACAAATAATTC | 4867 |
rs189432682 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110133944 | GAAGAGCTCAAGTCA[A/C]CAACCTAACTTTATG | 4867 |
rs189438713 | snp | C/G | 0.00358779 | 0.0422022 | intron-variant | NPHP1 | GRCh38.p7 | 2:110203195 | CAAATACCATATGTT[C/G]TCACTCGTTGAGTAC | 4867 |
rs189453552 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110160962 | GCTTGAGCTCAGGAG[C/T]TTGAGACCAGCCTGG | 4867 |
rs189472793 | snp | A/G | 0.00199481 | 0.0315187 | utr-variant-3-prime, downstream-variant-500B | NPHP1 | GRCh38.p7 | 2:110123597 | ACAGTATTCCTTATA[A/G]AAATTTATTTTATGG | 4867 |
rs189492701 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | NPHP1 | GRCh38.p7 | 2:110165338 | GGAATTTAGTATATA[C/T]GATGAGCATATAAAA | 4867 |
rs189500808 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110187290 | AGACTAATAAAGAAA[A/G]GAGAGAAGAATCAAA | 4867 |
rs189510051 | snp | A/T | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110203715 | ACATGAAAAAAATTA[A/T]AGTGAAATTAAAATG | 4867 |
rs189585982 | snp | A/G | | | intron-variant | NPHP1 | GRCh38.p7 | 2:110159578 | ATAAAGCTGTTTATA[A/G]TATCTCCTTATTGGC | 4867 |
rs189641768 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | NPHP1 | GRCh38.p7 | 2:110171291 | TGTGTGACAGACACT[A/G]TGTGCTTGGGCTATA | 4867 |
rs189645954 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | NPHP1 | GRCh38.p7 | 2:110141336 | GTAAATACTGGCTGT[G/T]TTATGTATTTTCTTT | 4867 |
rs189646262 | snp | A/G | 0.0356815 | 0.128715 | intron-variant | NPHP1 | GRCh38.p7 | 2:110191724 | CTCAAGTGGGTCCCT[A/G]ACCCCCAAGTAGCCT | 4867 |
rs189649819 | snp | A/T | 8.43263e-05 | 0.00649277 | intron-variant | NPHP1 | GRCh38.p7 | 2:110163146 | ATCTGCTGAAGACAG[A/T]AACATCAAAATGGAT | 4867 |
rs189704610 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | NPHP1 | GRCh38.p7 | 2:110186097 | GGCCCCGCCTCTCCC[G/T]GCTGATGGTAAGCGG | 4867 |