SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs1001122 | snp | A/G | 0.499087 | 0.0213463 | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132652934 | GTTGTAGTACCTGAG[A/G]TGGACCTTAACCAAT | 79876 |
rs1058331 | snp | G/T | 0.3512 | 0.228601 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676967 | AGCTGGCAAGCATCT[G/T]CTCATTATGTTTGGA | 79876 |
rs1058339 | snp | C/G | 0 | 0 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676535 | TATGTAGATAATGGA[C/G]TGGGATATATTGTAT | 79876 |
rs1378807 | snp | C/G | 0.497473 | 0.0354532 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132666346 | TAGAAACTTAGGAAA[C/G]AAGGCTGTTAATTTG | 79876 |
rs1378808 | snp | A/G | 0.0422008 | 0.138995 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132666975 | TTGGAAGCCTTATTA[A/G]AGCACAGATTAACAG | 79876 |
rs1378809 | snp | C/T | 0.031825 | 0.122064 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132670709 | TAACTGTTGTGAACA[C/T]ACTTTATACTTCCTT | 79876 |
rs1456118 | snp | A/C | 0.333261 | 0.235728 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132667307 | TGCAGCTAGACCACG[A/C]CATTTTGAGTAGCAA | 79876 |
rs2045302 | snp | C/T | 0.00398564 | 0.0444627 | upstream-variant-2KB, intron-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132658640 | CTTTATTCCACCTTT[C/T]CCTTCATCTTCCAAT | 79876 |
rs2168435 | snp | C/T | 0.41408 | 0.188621 | upstream-variant-2KB, utr-variant-5-prime, intron-variant, nc-transcript-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132660221 | ATCGCTGGCCTCCTG[C/T]CCTGGACACTTATCA | 79876 |
rs2305629 | snp | C/T | 0.463358 | 0.130324 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132675712 | AAATTGAAATGGCAG[C/T]ATAAAACAAAACCTT | 79876 |
rs3046203 | in-del | -/AT | 0.450105 | 0.149859 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132672369 | ACTTTTCATATATAT[-/AT]TGCTATATTAAATAT | 79876 |
rs3749272 | snp | A/C | 0.100588 | 0.200439 | upstream-variant-2KB, utr-variant-5-prime, intron-variant, nc-transcript-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132660470 | CCTCGCGGGCCCAGC[A/C]GAGCAACGTGGGGCG | 79876 |
rs3903482 | snp | A/G | 0 | 0 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132663250 | AAAAAACTTTCAGTT[A/G]AAAATCTGTTGAAGA | 79876 |
rs4494928 | snp | A/G | 0.0113848 | 0.0745842 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132675428 | GGATCATATTGAATA[A/G]GACAATACATAAACA | 79876 |
rs6786305 | snp | C/G | 0.148119 | 0.229693 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665144 | GCAAAATCTGATTCA[C/G]GTAATTGACTAAAAC | 79876 |
rs6786749 | snp | G/T | 0.0539704 | 0.155153 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132656506 | tcagatttttttttt[G/T]tttgagacggagtct | 79876 |
rs6792511 | snp | C/T | 0.0547245 | 0.156101 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132663296 | tcccctactccactg[C/T]gggtaactgggcaaa | 79876 |
rs6799695 | snp | C/T | 0.142609 | 0.225759 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665570 | TAGTAGTCGCAATCT[C/T]GGCTGCAAATCAGAA | 79876 |
rs6799696 | snp | C/T | 0.114738 | 0.210248 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665574 | AGTCGCAATCTTGGC[C/T]GCAAATCAGAATACA | 79876 |
rs10596982 | in-del | -/TGTG | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132668194 | gtgtgtgtgtgtgtg[-/TGTG]ACAAATGCTTTTTGA | 79876 |
rs10935027 | snp | A/G | 0.168135 | 0.236216 | intron-variant, upstream-variant-2KB | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132661908 | TGCCAAATATGAACG[A/G]TTAATGGTCCAGAAT | 79876 |
rs11720916 | snp | A/G | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132673558 | tcaccatgttgctca[A/G]gctgttcttgaactc | 79876 |
rs12495862 | snp | A/C | 0.350546 | 0.22889 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132671492 | TTTTTTTTGTTCCTG[A/C]AATGATTTTAGAAAA | 79876 |
rs12635575 | snp | A/T | 0.341783 | 0.232542 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132675940 | TACTTCAAAAATATG[A/T]TTTACCCATATGTAA | 79876 |
rs13070107 | snp | A/T | 0 | 0 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132656450 | ctaattcacacccct[A/T]tatgagtccctgttg | 79876 |
rs13096279 | snp | A/G | 0.0528381 | 0.153711 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132655209 | CTGGTCTATGCCACT[A/G]ATATCTCCCTGCTGG | 79876 |
rs16839481 | snp | A/G | 0.0482946 | 0.147699 | upstream-variant-2KB, utr-variant-5-prime, intron-variant, nc-transcript-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132660153 | CCGTCAGACTGTCGA[A/G]CCTAAGAATAAAAAG | 79876 |
rs16839489 | snp | C/T | 0.0829062 | 0.185956 | intron-variant, upstream-variant-2KB | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132661902 | CTGTGTTGCCAAATA[C/T]GAACGGTTAATGGTC | 79876 |
rs16839493 | snp | A/C | 0.0825414 | 0.185628 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132662755 | AGAGGCTTTGAGATT[A/C]GAAAACCTGGTATCA | 79876 |
rs16839507 | snp | C/T | 0.128632 | 0.218563 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676260 | TTACTGCCTTGTAAA[C/T]CAAAAGACTGGTGAG | 79876 |
rs34116314 | in-del | -/T | 0 | 0 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132656496 | ATTTTTTTTTTTTTT[-/T]GAGACGGAGTCTGCC | 79876 |
rs34375049 | in-del | -/A | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132675567 | TTAGAGAACTGAGAA[-/A]TGAGTAAGAACACTT | 79876 |
rs35064843 | snp | A/G | 0.0100361 | 0.0701238 | missense, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132671880 | AGAATAATGCATACC[A/G]CAAAACAAGCAGATT | 79876 |
rs35066291 | in-del | -/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132673681 | TTTTTTTTTTTTTTT[-/T]AAACAGGGTTTCACT | 79876 |
rs35136871 | in-del | -/T | | | intron-variant, nc-transcript-variant | NPHP3-ACAD11, UBA5 | GRCh38.p7 | 3:132678667 | ATTTATTTATTTTTT[-/T]GAGACAGAGTCTCAC | 79876 |
rs35143670 | in-del | -/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676415 | TATATGGTTCTTTTT[-/T]CACTGTATTTCCCTT | 79876 |
rs35215554 | in-del | -/A | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132673295 | TTTCTTTTTTATTAA[-/A]CAATGCTATAGGCTA | 79876 |
rs35287760 | in-del | -/AT/TA | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132672376 | TACTTTTCATATATA[-/AT/TA]TTGCTATATTAAATA | 79876 |
rs35657030 | in-del | -/A | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132670746 | GTAGTTCTTGTAAAA[-/A]TAAGTAATACTACAA | 79876 |
rs35885835 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132670050 | TTTTTTAGAGACAGG[A/G]TCTCACTCTGTCCCC | 79876 |
rs35920424 | in-del | -/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132662169 | AATATGTAGTATTTT[-/T]CTATCTGATTTGCAC | 79876 |
rs35965723 | in-del | -/T | | | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132653721 | ATTAATACTACTTTT[-/T]CAAGATCACTAATAC | 79876 |
rs35994006 | snp | C/T | 0.0818113 | 0.184966 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132656682 | TATTTTTAGTAGAGA[C/T]GGGGTTTCACCATGT | 79876 |
rs55866713 | snp | A/G | 0.0329836 | 0.124112 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132674839 | TATAGTAAGTTACAT[A/G]CAAAATGTTAAAATT | 79876 |
rs56190801 | in-del | -/T | 0.497803 | 0.033074 | upstream-variant-2KB, intron-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132657886 | TTTTTTTTTTTTTTT[-/T]GAGTCTCACTCTGTC | 79876 |
rs56246954 | snp | C/G | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132671353 | TCTTGGTCAGCATTA[C/G]TTTTAGCTTTTGTTA | 79876 |
rs57374224 | snp | A/G | 0.0637235 | 0.166737 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665040 | GCCCAGTTGTGAAGA[A/G]TTAACATCTAACCAA | 79876 |
rs57439039 | snp | G/T | 0.499968 | 0.00399348 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132655333 | GTTGTTTGTTTGTTT[G/T]TTTAAAGATTACTTC | 79876 |
rs57566104 | in-del | -/TGTGTG | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132668197 | GTGTGTGTGTGTGTG[-/TGTGTG]ACAAATGCTTTTTGA | 79876 |
rs59426843 | snp | C/T | 0.499982 | 0.00299515 | upstream-variant-2KB, intron-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132658768 | AAAGAATATAAATGC[C/T]AGTGATAAAATACCA | 79876 |
rs59780655 | in-del | -/T | | | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132652572 | ATCCATTTTTTTTTT[-/T]GCTTACACTGATATA | 79876 |
rs59956066 | in-del | -/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132672024 | TTTTCTCTTTTTTTT[-/T]GAAATGTGTTTTATT | 79876 |
rs61437184 | snp | C/T | 0.143284 | 0.226079 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132664315 | ACCAAGTTAAACTAT[C/T]GATTAAGAGTATATG | 79876 |
rs61621055 | snp | G/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132673532 | TTTGTATTTTTTGTA[G/T]AGACAAGGTTTCACC | 79876 |
rs61748106 | snp | A/G | 0.000347484 | 0.0131765 | missense, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665860 | ATGGGAATTGTAAGC[A/G]ACTATGAGGTATGAT | 79876 |
rs61748107 | snp | C/T | | | missense, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132668909 | TAAGTAAAGTTCAAG[C/T]AGCAGAACATACTCT | 79876 |
rs62292464 | snp | G/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132667655 | TCTTTAAAGTATCTG[G/T]GGTGCCTTGGATCAC | 79876 |
rs73000571 | snp | C/T | 0.0287284 | 0.116357 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132656943 | TCTGGTGAGCTATTA[C/T]AGTTATATTCTGAAT | 79876 |
rs73000573 | snp | A/C | 0.109108 | 0.206518 | upstream-variant-2KB, intron-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132658573 | AATTTGAACTTTGAT[A/C]TGTTTCAGTTTGTTA | 79876 |
rs73000577 | snp | C/G | 0.0547245 | 0.156101 | utr-variant-5-prime, intron-variant, upstream-variant-2KB | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132660791 | ACGTCCCGCTCATGG[C/G]GACGCCCGCCACCCT | 79876 |
rs73000581 | snp | G/T | 0.0547245 | 0.156101 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132664047 | AGGACAAATCCAGAT[G/T]GTTCAACTTCCAAAT | 79876 |
rs73000586 | snp | A/G | 0.0547245 | 0.156101 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132668500 | AGTAAATTATTTAGA[A/G]AGGCAGCACAGCATT | 79876 |
rs73000590 | snp | A/G | 0.0547245 | 0.156101 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132668601 | GTGGCCTTTGGACAA[A/G]TGTTGTAGTTGCCTC | 79876 |
rs73000594 | snp | G/T | 0.00517822 | 0.0506191 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676932 | AGGGAGAAGGACAAG[G/T]CATACAGCTTATTGA | 79876 |
rs73000598 | snp | A/C | 0.127944 | 0.218179 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132677763 | TTGTAAAATAAAGTT[A/C]AAAAAACTGATTTCA | 79876 |
rs73002041 | snp | C/T | 0.109108 | 0.206518 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132655633 | GAAATCTTCCTGCCC[C/T]ACACCCAAACATTTC | 79876 |
rs73220108 | snp | C/T | 0.0829062 | 0.185956 | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132654315 | CCTAGATGGTATAGC[C/T]TATTATGCACTGATA | 79876 |
rs73220109 | snp | A/G | 0.0337687 | 0.125554 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132667910 | TTTGGAGACTCTTAC[A/G]TAGGATTAGAAAATT | 79876 |
rs73860788 | snp | C/T | 0.0425829 | 0.139564 | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132656001 | ACACCATTTTCACTA[C/T]CCGGAGAAAATTACT | 79876 |
rs73860792 | snp | A/G | 0.00279162 | 0.0372561 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132677959 | TTAGCTTATTGAACT[A/G]TAAAATAGCTTTTCT | 79876 |
rs74407879 | snp | A/G | 0.031825 | 0.122064 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132662729 | TAGTTATAAGCATGT[A/G]GAAAAATTGGAGAGG | 79876 |
rs74567421 | snp | G/T | 0.00279162 | 0.0372561 | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132654210 | TCAAAATACAGTCAT[G/T]CATTGCTTAATGACA | 79876 |
rs75379140 | snp | G/T | 0.0356815 | 0.128715 | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132653430 | GAAGGACGTGCACAT[G/T]TCTATCTAAGGGCAA | 79876 |
rs75397248 | snp | A/G | 0.0111196 | 0.0737302 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132669750 | CCAAATTTGTTAACT[A/G]AGTAAGGAAGTGAGG | 79876 |
rs75491911 | snp | C/T | 0.0825414 | 0.185628 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132664065 | TCAACTTCCAAATAA[C/T]AGGAGTTCCAGATAG | 79876 |
rs75759619 | snp | A/G | 0.00441877 | 0.046796 | upstream-variant-2KB, utr-variant-5-prime, intron-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132659564 | GAAAACTCAATGTAC[A/G]AATTTTTTTCCGCTG | 79876 |
rs76460603 | snp | C/G | 0.0437281 | 0.141251 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132669094 | AACTTTTTATGTATA[C/G]GTTAGATAATAAATA | 79876 |
rs76551480 | snp | A/C | 0.5 | 0 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132671417 | GAAAACCTGGTTTCT[A/C]AAAAAAAAATTATTT | 79876 |
rs76591495 | snp | A/G | 0.00129858 | 0.0254481 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676892 | GAGGACATGGACAAT[A/G]AAGTAGTATATGATC | 79876 |
rs76695042 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132674955 | GTTGTTGACGTGTAA[C/T]TGTTTAGCTGCCAGC | 79876 |
rs76755162 | snp | A/C | 0.5 | 0 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132671418 | AAAACCTGGTTTCTC[A/C]AAAAAAAATTATTTT | 79876 |
rs76761227 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132670046 | ACATTTTTTTAGAGA[C/T]AGGGTCTCACTCTGT | 79876 |
rs76983902 | snp | A/G | | | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132657472 | AAATTAGAGAAAAAA[A/G]TTAGGATTTTGATTG | 79876 |
rs77062368 | snp | A/T | 0.5 | 0 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132670027 | AGTAGTAGTCTTTTT[A/T]AAAACATTTTTTTAG | 79876 |
rs77695809 | snp | C/T | 0.0599851 | 0.162463 | utr-variant-3-prime, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132677535 | AAATTAGTTTTCTCT[C/T]GAGTTACACCCAAGT | 79876 |
rs77793962 | snp | A/G | 0.0588605 | 0.161139 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665340 | CTGCAGATTACCAGT[A/G]ACTAGTTAAAGCACC | 79876 |
rs78551370 | snp | A/G | 0.0221141 | 0.102801 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665431 | AGAGGCAACAAGAGA[A/G]TGGAATTCCAGCCAT | 79876 |
rs78885051 | in-del | -/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132673666 | AGTTTTCTATAGTAC[-/T]TTTTTTTTTTTTTTT | 79876 |
rs78910211 | snp | G/T | 0.079617 | 0.182947 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132663878 | TGATACAGGAACAAG[G/T]TGCAAAGTATTTAGA | 79876 |
rs78918179 | snp | A/T | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132676308 | TCTTTCTTCTAAAAA[A/T]TAGAAGATAGTTGTT | 79876 |
rs78994418 | snp | A/G | | | intron-variant | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132657470 | TCAAATTAGAGAAAA[A/G]AATTAGGATTTTGAT | 79876 |
rs79222085 | snp | C/T | 0.0283406 | 0.115616 | intron-variant, upstream-variant-2KB | ACAD11, UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132654272 | GATTTTTGTCACGTG[C/T]AAACATCCTAGAGTG | 79876 |
rs79473310 | snp | A/G | 0.0818113 | 0.184966 | upstream-variant-2KB, utr-variant-5-prime, intron-variant, nc-transcript-variant | UBA5, ACAD11, NPHP3-ACAD11 | GRCh38.p7 | 3:132659844 | CCCTCTAGAGCATGG[A/G]CCGAGGCCGGGGTGG | 79876 |
rs79684191 | snp | A/C | 0.00755907 | 0.0610114 | downstream-variant-500B, intron-variant, nc-transcript-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132678530 | AATGGGAAGTTAGTT[A/C]TGGTTCTACTTAAAT | 79876 |
rs80075645 | snp | A/C | | | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665396 | GTGCTTACTAAAAGT[A/C]TACATCATCTATTGT | 79876 |
rs80185422 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132668334 | AGGAGTCAGGTTATA[C/T]TATATTTTAAGTTAC | 79876 |
rs80318415 | snp | C/T | 0.031825 | 0.122064 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132673072 | AAATTGAAAAAAGCA[C/T]ACATATAAACTCTCA | 79876 |
rs111321422 | in-del | -/GTA | 0.0162398 | 0.0886349 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132672304 | ACTTTAAACTTAAAT[-/GTA]GTTTTAAATGTTTTA | 79876 |
rs111335259 | snp | A/G | 0.00676609 | 0.0577691 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132671579 | ATATTTACTGACTGC[A/G]TCTTGAATACTGTCA | 79876 |
rs111361103 | snp | C/G | 0.00597247 | 0.0543191 | intron-variant | UBA5, NPHP3-ACAD11 | GRCh38.p7 | 3:132665093 | GAAGTTGGTGGGATG[C/G]AAGATGTCTGCGTGC | 79876 |