SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs3117 | snp | C/T | 0.425277 | 0.178263 | utr-variant-3-prime | ERCC8 | GRCh38.p7 | 5:60874510 | AATTAGCCCTAAATG[C/T]GGGTAATATTTTTCC | 1161 |
rs158570 | snp | A/G | 0.468047 | 0.122292 | intron-variant | ERCC8 | GRCh38.p7 | 5:60929087 | AAAATCTATAAATAC[A/G]TTAGGATGTGTGGTA | 1161 |
rs158571 | snp | A/G | 0.468949 | 0.12067 | intron-variant | ERCC8 | GRCh38.p7 | 5:60940909 | TGCATATAAAGAACC[A/G]TGAAAATTTCAACTT | 1161 |
rs158572 | snp | A/G | 0.424968 | 0.178567 | intron-variant, upstream-variant-2KB | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60943616 | tacagattaaaagag[A/G]aaattggccaaaaga | 1161 |
rs158918 | snp | A/T | 0.232359 | 0.249377 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60946294 | TTTCAAGTGAGGATG[A/T]TGAGACTTGGAGAGG | 1161 |
rs158919 | snp | A/C | 0.425123 | 0.178415 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60946119 | TTTCAATGGACAGCA[A/C]CGCCTCCTTACTCCC | 1161 |
rs158920 | snp | C/T | 0.312123 | 0.242158 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60945441 | GGCTCTCACTTTTCC[C/T]TCCTTTACTGACCTC | 1161 |
rs158921 | snp | C/T | 0.461497 | 0.1333 | ERCC8, NDUFAF2 | 5 | allele_origin=T(germline)/C(germline) | 5:60945315 | CGTGCCCACGTGCTC[C/T]TTCACTTCCCTTGAC | 1161 |
rs158922 | snp | C/T | 0.399432 | 0.200425 | upstream-variant-2KB, utr-variant-5-prime | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60945159 | GGCGGAGAAGTCAGG[C/T]CGGCCTCCATCCTGG | 1161 |
rs158927 | snp | A/G | 0.411578 | 0.190768 | intron-variant | ERCC8 | GRCh38.p7 | 5:60933439 | ggccaggctggtctc[A/G]aactcctgactgcag | 1161 |
rs158928 | snp | C/T | 0.256897 | 0.249905 | intron-variant | ERCC8 | GRCh38.p7 | 5:60932096 | CAGAGGTAAGCTTTC[C/T]CACTTAGTATGGGAT | 1161 |
rs158929 | snp | C/T | 0.425123 | 0.178415 | intron-variant | ERCC8 | GRCh38.p7 | 5:60930214 | tcgaactcctcacct[C/T]aggtgatccgcccac | 1161 |
rs158930 | snp | C/T | 0.0592355 | 0.161582 | intron-variant | ERCC8 | GRCh38.p7 | 5:60929696 | ATAAAATATCAGAAA[C/T]GTCATTTGTCTTAGT | 1161 |
rs158931 | snp | C/G | 0.425123 | 0.178415 | intron-variant, upstream-variant-2KB | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60943871 | gtgttttttttgcca[C/G]tgtcacttcctctga | 1161 |
rs158932 | snp | C/G | 0.425123 | 0.178415 | intron-variant | ERCC8 | GRCh38.p7 | 5:60942869 | CATATCAGTGTTCAT[C/G]CTTTTGCTCTTACAT | 1161 |
rs158933 | snp | A/G | 0.468949 | 0.12067 | intron-variant | ERCC8 | GRCh38.p7 | 5:60942763 | ttcatcaaattgtat[A/G]ttctcatttaatgtg | 1161 |
rs158934 | snp | A/T | 0.468949 | 0.12067 | intron-variant | ERCC8 | GRCh38.p7 | 5:60942425 | tcgacaagtgactag[A/T]taaactgtggtatat | 1161 |
rs158935 | snp | C/T | 0.425123 | 0.178415 | intron-variant | ERCC8 | GRCh38.p7 | 5:60942157 | taaataatgttcaaa[C/T]agtcaaatgaaagca | 1161 |
rs158936 | snp | A/G | 0.165289 | 0.235211 | intron-variant | ERCC8 | GRCh38.p7 | 5:60941944 | ATATaatgtatgtaa[A/G]tataaaatataagac | 1161 |
rs158937 | snp | C/T | 0.232651 | 0.249397 | intron-variant | ERCC8 | GRCh38.p7 | 5:60940379 | aaacaacagggattg[C/T]ccctaccctcttggg | 1161 |
rs158938 | snp | C/T | 0.41141 | 0.19091 | intron-variant | ERCC8 | GRCh38.p7 | 5:60939413 | TCTTTGTGCTAAGGT[C/T]CATAGAAATATTTTA | 1161 |
rs162228 | snp | A/G | 0.425123 | 0.178415 | intron-variant | ERCC8 | GRCh38.p7 | 5:60930759 | TTACTGTTTGTCTGG[A/G]TATTTAAACCTAAGG | 1161 |
rs167037 | snp | C/G | 0.00503775 | 0.0499349 | missense, intron-variant | ERCC8 | GRCh38.p7 | 5:60904824 | TTGGTGGAGACTGGA[C/G]ACATATGATGACTAT | 1161 |
rs169663 | snp | C/G | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60881455 | tatgccgtgccccca[C/G]aggtgaagtctacag | 1161 |
rs169664 | snp | C/G | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60881866 | cgctgcacccactgt[C/G]ctgcacccactgtcc | 1161 |
rs182327 | snp | G/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60878660 | tagtttatttgcata[G/T]aggtgtttatagtat | 1161 |
rs182352 | snp | A/T | 0.411242 | 0.191052 | intron-variant | ERCC8 | GRCh38.p7 | 5:60939487 | AAGTTATCTAAAAAT[A/T]AAAAAAAAGAAGTAT | 1161 |
rs184091 | snp | C/G | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60891710 | TTCTGTTGTAAAACA[C/G]AGTAGGGGTTAAATA | 1161 |
rs185975 | snp | G/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60878368 | caggctttggtatca[G/T]gatgatgctgacctc | 1161 |
rs185976 | snp | C/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60891804 | TCCCCAACTATGTGT[C/T]TTTGCCTCCCACTGT | 1161 |
rs186008 | snp | G/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60938804 | TTCCTCCATATATAT[G/T]TAGCTTTATATAATG | 1161 |
rs188297 | snp | C/G | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60881853 | ctcatgctcagtgcg[C/G]tgcacccactgtcct | 1161 |
rs192626 | snp | A/G | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60895121 | gctgcagtgagccaa[A/G]atggcgccactgccc | 1161 |
rs290514 | snp | C/T | 0.41141 | 0.19091 | intron-variant | ERCC8 | GRCh38.p7 | 5:60934494 | agaaaatcttcacaa[C/T]ctatacatccaacag | 1161 |
rs290515 | snp | C/T | 0.424968 | 0.178567 | intron-variant | ERCC8 | GRCh38.p7 | 5:60934886 | tgtaagtatttggct[C/T]tacttgtgggttctc | 1161 |
rs290516 | snp | C/T | 0.425123 | 0.178415 | intron-variant | ERCC8 | GRCh38.p7 | 5:60938502 | GGGATTACAGGCGTG[C/T]GCCACCACACCCGGC | 1161 |
rs290517 | snp | C/T | 0.232651 | 0.249397 | intron-variant | ERCC8 | GRCh38.p7 | 5:60938602 | caggtgatccacctg[C/T]ctcggcctcccaaag | 1161 |
rs929780 | snp | C/G | 0.245631 | 0.249962 | intron-variant | ERCC8 | GRCh38.p7 | 5:60893199 | AGGTGGTAGAATACT[C/G]TGATGTGATTCTGGA | 1161 |
rs952230 | snp | G/T | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60900616 | TGACCATCAAACCTA[G/T]CCAACTGGAATAGTT | 1161 |
rs952231 | snp | C/T | 0.031825 | 0.122064 | intron-variant | ERCC8 | GRCh38.p7 | 5:60900401 | AAATGCCTGGCAATC[C/T]GACGTGCTCCTAATC | 1161 |
rs966497 | snp | A/G | 0.146314 | 0.227484 | intron-variant | ERCC8 | GRCh38.p7 | 5:60915669 | ATTTCTTGGCTTGTG[A/G]TCCCCTTAATCCATC | 1161 |
rs976080 | snp | G/T | 0.23846 | 0.249734 | intron-variant | ERCC8 | GRCh38.p7 | 5:60921824 | ATCAATTTTCATTAG[G/T]ATTTTATTTTTAAAA | 1161 |
rs976581 | snp | C/T | 0.424968 | 0.178567 | intron-variant | ERCC8 | GRCh38.p7 | 5:60915598 | GTTGACAGGCTGCAT[C/T]CCTTTTTGGAGGCTC | 1161 |
rs976630 | snp | A/C | 0.491987 | 0.0627894 | intron-variant, downstream-variant-500B | ERCC8, LOC105378991 | GRCh38.p7 | 5:60919654 | ACCTTTATTATTTTT[A/C]TAGGTTAACTATATC | 1161 |
rs976631 | snp | C/T | 0.491987 | 0.0627894 | intron-variant | ERCC8 | GRCh38.p7 | 5:60920216 | AGTCTGATTCTCCCA[C/T]CTTCCTGACAGTTAT | 1161 |
rs1021005 | snp | A/G | 0.491885 | 0.0631791 | intron-variant | ERCC8 | GRCh38.p7 | 5:60895633 | TACATGTTTAAAAAT[A/G]TAACATTCCCTCATT | 1161 |
rs1038144 | snp | C/T | 0.238749 | 0.249747 | intron-variant, utr-variant-3-prime | ERCC8 | GRCh38.p7 | 5:60903374 | GTGAGTTGCATTAGT[C/T]TTTTTAATGTAGAAA | 1161 |
rs1047032 | snp | C/G | 0 | 0 | utr-variant-3-prime | ERCC8 | GRCh38.p7 | 5:60874334 | GTACCTCAGTTGTGA[C/G]CTTCAGCAGATTTTA | 1161 |
rs1048151 | snp | G/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60932922 | AGGGCTTGCTTTTTG[G/T]CCTTACCCTTCTACC | 1161 |
rs1316649 | snp | A/G | 0.242775 | 0.249896 | intron-variant | ERCC8 | GRCh38.p7 | 5:60936515 | gttgttgtcctttca[A/G]tttcatttatttctg | 1161 |
rs1382915 | snp | A/G | 0.0240643 | 0.107019 | intron-variant | ERCC8 | GRCh38.p7 | 5:60900448 | TCATGTCCTCACAAG[A/G]ACCTCAACAATATTG | 1161 |
rs1382916 | snp | A/T | 0.21845 | 0.248001 | intron-variant | ERCC8 | GRCh38.p7 | 5:60900538 | CTATTTTTTATTTAA[A/T]TTTTTTAAAAAAATA | 1161 |
rs1479646 | snp | A/T | 0.0225045 | 0.103662 | intron-variant | ERCC8, LOC105378991 | GRCh38.p7 | 5:60918676 | agccaactacactgg[A/T]cttctttcatcttga | 1161 |
rs1644458 | snp | A/G | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60914785 | tttttttttttaaga[A/G]acaagagtcttgccc | 1161 |
rs1644460 | snp | C/T | | | missense, intron-variant | ERCC8 | GRCh38.p7 | 5:60904806 | CCTGCTACCAAACAG[C/T]GCTTGGTGGAGACTG | 1161 |
rs1644462 | snp | A/C | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60895101 | ctcactgcagcctcc[A/C]cctcccaggttcaag | 1161 |
rs1644463 | snp | C/T | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60895080 | caggttcaagcaatt[C/T]tctctctcagcctcc | 1161 |
rs1644465 | snp | A/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60891272 | GTGGTTTTTTACTAT[A/T]TGTATTTCCTCTTTT | 1161 |
rs1664211 | snp | A/G | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60914787 | tttttttttttttaa[A/G]aaacaagagtcttgc | 1161 |
rs1812404 | snp | A/C/T | 0.183568 | 0.241012 | intron-variant | ERCC8 | GRCh38.p7 | 5:60881851 | ggctcatgctcagtg[A/C/T]gctgcacccactgtc | 1161 |
rs1820082 | snp | C/T | 0.232651 | 0.249397 | intron-variant | ERCC8 | GRCh38.p7 | 5:60936710 | tcccagaggttttga[C/T]aggttgtgtcactat | 1161 |
rs1820083 | snp | C/T | 0.424348 | 0.179172 | intron-variant | ERCC8 | GRCh38.p7 | 5:60883006 | ACACACACACACACA[C/T]GTCTGTAGGTGGATA | 1161 |
rs2120954 | snp | G/T | 0.214239 | 0.247429 | intron-variant | ERCC8 | GRCh38.p7 | 5:60923653 | tgtcttgtaaaaaaa[G/T]aagtatactaaagaa | 1161 |
rs2120955 | snp | C/T | 0.424968 | 0.178567 | intron-variant | ERCC8 | GRCh38.p7 | 5:60923541 | ttttctctgaactta[C/T]catatacctcatcaa | 1161 |
rs2120956 | snp | C/T | 0.491885 | 0.0631791 | intron-variant | ERCC8 | GRCh38.p7 | 5:60896279 | TGGAGTGCAATGGCG[C/T]GATCTCGGCTCACCG | 1161 |
rs2120957 | snp | C/T | 0.491834 | 0.0633738 | intron-variant | ERCC8 | GRCh38.p7 | 5:60896442 | GTCTTGATCTCCTGA[C/T]CTCGTGATCCACCCA | 1161 |
rs2306350 | snp | C/T | 0.258843 | 0.249844 | intron-variant | ERCC8 | GRCh38.p7 | 5:60890791 | AATGTGGATTAAAAG[C/T]ATAACTCCTCAGAAT | 1161 |
rs2306351 | snp | A/C | 0.257176 | 0.249897 | intron-variant | ERCC8 | GRCh38.p7 | 5:60891148 | TAAAACACAACAAAG[A/C]CTAGGAGAAATACTT | 1161 |
rs2409837 | snp | A/T | 0.3748 | 0.216622 | intron-variant | ERCC8 | GRCh38.p7 | 5:60908581 | tatatatatatatat[A/T]tatTTTTTTTTTAAA | 1161 |
rs2409838 | snp | A/T | 0.498277 | 0.0293024 | intron-variant | ERCC8 | GRCh38.p7 | 5:60908583 | TATATATATATATAT[A/T]TTTTTTTTTTAAATA | 1161 |
rs2447805 | snp | A/G | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60881960 | cattgctcacgctgg[A/G]agctgcagactggag | 1161 |
rs2590567 | snp | A/C | 0 | 0 | | | GRCh38.p7 | 5:60885634 | AAGCCACAATAAACC[A/C]AATTAGACGTGATAA | 1161 |
rs2590568 | snp | A/G | | | | | GRCh38.p7 | 5:60909869 | tgaggcaggagaatc[A/G]cttgaactcaggacg | 1161 |
rs2590570 | snp | C/T | 0.214239 | 0.247429 | | | GRCh38.p7 | 5:60925467 | GATATGTTTGAGTGG[C/T]CCATGGTAAGACCAG | 1161 |
rs2619904 | snp | C/G | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60890874 | GAACATTTTAAATTC[C/G]TGTATCACTCTTACC | 1161 |
rs2619906 | snp | A/T | 0.244898 | 0.249948 | intron-variant | ERCC8 | GRCh38.p7 | 5:60938350 | TAGCTACCTTTTTGA[A/T]TTTTTTTTTTTTTTT | 1161 |
rs2694518 | snp | A/G | 0.425277 | 0.178263 | intron-variant | ERCC8 | GRCh38.p7 | 5:60938009 | AGTTAatatgtatgc[A/G]tgtgtgtgtgtgtgt | 1161 |
rs2694519 | snp | C/T | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60938048 | ATACATACATACATA[C/T]ATATATATATATATA | 1161 |
rs2694520 | snp | C/T | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60938044 | ATACATACATACATA[C/T]ATACATATATATATA | 1161 |
rs2711685 | snp | C/T | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60881379 | agaaccactgctctc[C/T]tcaaagctgtcagac | 1161 |
rs3031040 | in-del | -/T/TTT | 0 | 0 | intron-variant | ERCC8 | GRCh38.p7 | 5:60908593 | ATATATTTTTTTTTT[-/T/TTT]AAATAATGGCTTTGT | 1161 |
rs3797559 | snp | C/T | 0.492037 | 0.0625946 | intron-variant | ERCC8 | GRCh38.p7 | 5:60927914 | aagtcagaacagatt[C/T]gataaacttccactt | 1161 |
rs3797562 | snp | A/G | 0.25801 | 0.249872 | intron-variant | ERCC8 | GRCh38.p7 | 5:60901273 | AGAAGTCATGGGTAA[A/G]AGGAAAAAAATCACA | 1161 |
rs3822578 | snp | A/G | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60891469 | AAGAATGGTTGCATT[A/G]ATAAACCATTTGCCC | 1161 |
rs3832350 | in-del | -/A | 0.49389 | 0.0814969 | intron-variant | ERCC8 | GRCh38.p7 | 5:60892140 | CACCCTAAAAAAAAA[-/A]CAGTAAGGTGGATGT | 1161 |
rs3925381 | snp | G/T | 0.0356815 | 0.128715 | intron-variant | ERCC8 | GRCh38.p7 | 5:60882010 | ttggctccACctagt[G/T]ttttgtatttttagt | 1161 |
rs4235483 | snp | A/G | 0.428333 | 0.175206 | intron-variant | ERCC8 | GRCh38.p7 | 5:60892395 | AAGTTCTTTGACATC[A/G]AGGATACCGAGCAAG | 1161 |
rs4235484 | snp | A/G | 0.23846 | 0.249734 | intron-variant | ERCC8 | GRCh38.p7 | 5:60920806 | GCTACATAATATTCC[A/G]TGAGGAACTGTGATT | 1161 |
rs4339295 | snp | G/T | 0.425123 | 0.178415 | intron-variant | ERCC8 | GRCh38.p7 | 5:60876913 | gtcaattttggcttt[G/T]gttgccattgctttt | 1161 |
rs4394077 | snp | G/T | 0.0517044 | 0.152246 | intron-variant | ERCC8 | GRCh38.p7 | 5:60880967 | GTTTCCAGTTTTTCT[G/T]CTCTGTTTTTTCCCC | 1161 |
rs4395591 | snp | A/T | 0.338976 | 0.23363 | intron-variant | ERCC8 | GRCh38.p7 | 5:60909972 | tctagaaaaaaaaaa[A/T]aataataataataaa | 1161 |
rs4464637 | snp | C/T | 0.0517044 | 0.152246 | intron-variant | ERCC8 | GRCh38.p7 | 5:60880968 | TTTCCAGTTTTTCTG[C/T]TCTGTTTTTTCCCCA | 1161 |
rs4546327 | snp | C/T | | | intron-variant | ERCC8 | GRCh38.p7 | 5:60881475 | GAAGTCTACAGAGGC[C/T]GGCAGGCCTCCTTGA | 1161 |
rs4647025 | snp | C/T | 0.00318978 | 0.0398085 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60946721 | ggttactctactcat[C/T]tgtcaaaaacaataa | 1161 |
rs4647026 | in-del | -/GACGGCGGCTAC | 0.0115603 | 0.0751433 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60946144 | CACAGAAGAGGTTAC[-/GACGGCGGCTAC]ACAGTGTGATTTCAA | 1161 |
rs4647027 | snp | A/T | 0.0329836 | 0.124112 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60946083 | AACCCGCTCAACTAC[A/T]TGGCACGAATCCTAC | 1161 |
rs4647028 | snp | A/C | 0.240478 | 0.249819 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60945999 | TGGAATGTCAACTCC[A/C]GAGAAAGGAATCAGC | 1161 |
rs4647029 | snp | G/T | 0.127254 | 0.217792 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60945916 | GCGCATGGGGCCAGC[G/T]CCGGAGCCAGGGTGC | 1161 |
rs4647030 | snp | C/T | 0.127599 | 0.217986 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60945740 | AGATTTCCGTGGACT[C/T]TTCCCTGCCTCCGTC | 1161 |
rs4647031 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB, intron-variant | ERCC8, NDUFAF2 | GRCh38.p7 | 5:60945694 | AAACTGAGGCTCCTC[C/T]ACAGGCGTGGCTGGG | 1161 |