SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs734907 | snp | A/G | 0.00332778 | 0.0406548 | intron-variant | ERCC6 | GRCh38.p7 | 10:49480160 | GTCTATATTTGGGCT[A/G]CTGACATGCTCCCCA | 2074 |
rs912470 | snp | A/C | 0.128976 | 0.218754 | intron-variant | ERCC6 | GRCh38.p7 | 10:49480609 | gacatgttctcaaat[A/C]atttttctataaatg | 2074 |
rs932735 | snp | A/C | 0.473266 | 0.112482 | intron-variant | ERCC6 | GRCh38.p7 | 10:49467878 | tgtctggaacccaat[A/C]aaaaattacTggctg | 2074 |
rs958967 | snp | A/G | 0.179425 | 0.239831 | intron-variant | ERCC6 | GRCh38.p7 | 10:49502574 | AGCTCAGAATGGTTA[A/G]GTAACTTGCCAAAGG | 2074 |
rs971026 | snp | G/T | 0.0448719 | 0.142907 | intron-variant | ERCC6 | GRCh38.p7 | 10:49463700 | cagtgtaggaaagac[G/T]catcttcataattaa | 2074 |
rs971667 | snp | A/G | 0.29789 | 0.24537 | intron-variant | ERCC6 | GRCh38.p7 | 10:49497048 | CCAGCTACAGTCACT[A/G]TCCCTGCCCTTCAAC | 2074 |
rs973808 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | ERCC6 | GRCh38.p7 | 10:49498403 | TTCTGTAAGACATAA[A/G]TATAGAGAACTCCCA | 2074 |
rs1012553 | snp | C/T | 0.483491 | 0.0893421 | intron-variant | ERCC6 | GRCh38.p7 | 10:49532097 | TTCAGATTTGCATTT[C/T]TAGAAATAATAAAGA | 2074 |
rs1012554 | snp | A/G | 0.483563 | 0.0891524 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531511 | GGCTGGTGGCATGTG[A/G]TGTCTCAGCCAGTAA | 2074 |
rs1018603 | snp | A/C | 0.215446 | 0.2476 | intron-variant | ERCC6, PGBD3 | GRCh38.p7 | 10:49520325 | GGGAAGCTTTGCTCT[A/C]GTCTGTGCTCGTTGC | 2074 |
rs1126112 | snp | A/G | 0.0905309 | 0.192535 | intron-variant | ERCC6 | GRCh38.p7 | 10:49533037 | CATTGTAGTTCTTAA[A/G]TATTTTATAATTAGA | 2074 |
rs1917801 | snp | C/T | 0.232943 | 0.249417 | intron-variant | ERCC6 | GRCh38.p7 | 10:49536260 | CACTGTAGCTGTCTC[C/T]CTGCCAGAGGCAAGC | 2074 |
rs1917802 | snp | A/G | 0.237303 | 0.249677 | intron-variant | ERCC6 | GRCh38.p7 | 10:49536124 | CACTGAAACTTTTTT[A/G]TTTTTTCGAGACAGA | 2074 |
rs1924488 | snp | A/G | 0.370772 | 0.218893 | intron-variant | ERCC6 | GRCh38.p7 | 10:49496787 | CACTCCAGCCTGGGC[A/G]ACAAGAGCGAGACTC | 2074 |
rs1964145 | snp | A/C | 0.0905309 | 0.192535 | intron-variant | ERCC6 | GRCh38.p7 | 10:49533205 | AAATGCAGTATCATC[A/C]ACAAAGGACATTTAG | 2074 |
rs2104346 | snp | C/T | 0.128976 | 0.218754 | intron-variant | ERCC6 | GRCh38.p7 | 10:49464555 | CATGAAGGTCTCTGA[C/T]ATGCCCTGCAGACAT | 2074 |
rs2209281 | snp | A/G | 0.481396 | 0.0946345 | intron-variant | ERCC6 | GRCh38.p7 | 10:49465332 | TCCTAGATACAATAG[A/G]GTTACAGGCATTGGG | 2074 |
rs2228524 | snp | C/G | 0.424235 | 0.179283 | ERCC6 | 10 | allele_origin=G(germline)/C(germline) | 10:49532830 | GGTGGAGGAGTACCT[C/G]TCCTTTCGTTCTGTG | 2074 |
rs2228525 | snp | C/T | 0.0103388 | 0.0711514 | missense | ERCC6 | GRCh38.p7 | 10:49472913 | ACCCAAGCACGGACA[C/T]GCAGGTTTGTTTTTA | 2074 |
rs2228526 | snp | A/G | 0.341578 | 0.232623 | ERCC6 | 10 | allele_origin=G(germline)/A(germline) | 10:49470671 | AAAGATGACCCTCAC[A/G]TGAGTAGTAATGTAA | 2074 |
rs2228527 | snp | A/G | 0.343574 | 0.231827 | ERCC6 | 10 | allele_origin=G(germline)/A(germline) | 10:49470323 | AACTCTAAGCATTGC[A/G]GAGACGCCAAGTTTG | 2074 |
rs2228528 | snp | A/G | 0.314901 | 0.241429 | ERCC6, PGBD3 | 10 | allele_origin=G(germline)/A(germline) | 10:49524234 | ACCTGTCTGGAGATG[A/G]TACTGACTATGAGCT | 2074 |
rs2228529 | snp | A/G | 0.340775 | 0.232937 | ERCC6 | 10 | allele_origin=G(germline)/A(germline) | 10:49459059 | AAAGCGGGCACCTGC[A/G]GGAAGCTTCTGCCCT | 2074 |
rs2229760 | snp | C/T | 0.446871 | 0.154084 | ERCC6 | 10 | allele_origin=T(germline)/C(germline) | 10:49472987 | GACCACGCGGGTGGG[C/T]GGCTTAGGTGTCAAC | 2074 |
rs2229761 | snp | C/G | 0.00444633 | 0.0469403 | missense | ERCC6 | GRCh38.p7 | 10:49461413 | CGGTGTCTGGGAGCA[C/G]TGTCTGGTGTTCCCA | 2074 |
rs2274097 | snp | C/T | 0.0216935 | 0.101863 | synonymous-codon | ERCC6 | GRCh38.p7 | 10:49471035 | AATGATCTCTATGAG[C/T]TATTTACTCTGACTA | 2074 |
rs2281792 | snp | C/T | 0.389527 | 0.207442 | intron-variant | ERCC6, PGBD3 | GRCh38.p7 | 10:49519310 | CTGTGGGCAAGCCAA[C/T]TAACTGGAGGGGCCG | 2074 |
rs2281793 | snp | C/T | 0.389715 | 0.207315 | intron-variant | ERCC6, PGBD3 | GRCh38.p7 | 10:49519496 | GAGGGAGCCTTCAAA[C/T]CATGCAGAGGAACCA | 2074 |
rs2281794 | snp | C/T | 0.289942 | 0.246789 | intron-variant | ERCC6, PGBD3 | GRCh38.p7 | 10:49520374 | GGGCAGCAACTTAAA[C/T]AGTAACTGCCGATAC | 2074 |
rs3219688 | microsatellite | (CA)15/16/17/18/19 | 0.7451 | 0.109864 | intron-variant | ERCC6 | GRCh38.p7 | 10:49537534 | atatatatatatata[(CA)15/16/17/18/19]aaatataattGTGGT | 2074 |
rs3750745 | snp | G/T | 0.373397 | 0.217424 | intron-variant | ERCC6 | GRCh38.p7 | 10:49538877 | GGGCCGCGGCCCCGC[G/T]CCTTGGCCTCGCCGT | 2074 |
rs3750746 | snp | C/T | 0.353587 | 0.22753 | intron-variant | ERCC6 | GRCh38.p7 | 10:49538810 | GGTCTTAGGGCCAAG[C/T]GCCCGCTTCCGGCGG | 2074 |
rs3750747 | snp | C/G | 0.381891 | 0.212379 | intron-variant | ERCC6 | GRCh38.p7 | 10:49538806 | TTAGGGCCAAGTGCC[C/G]GCTTCCGGCGGCCTC | 2074 |
rs3750748 | snp | A/G | 0.284995 | 0.247539 | intron-variant | ERCC6, PGBD3 | GRCh38.p7 | 10:49521368 | GTGATGTGGGTTCCC[A/G]GTGAGCACCTACATG | 2074 |
rs3750749 | snp | C/T | 0.213756 | 0.247359 | intron-variant | ERCC6 | GRCh38.p7 | 10:49476182 | AGCTGGAGAAATGAA[C/T]TGTGGACCAAGAGAA | 2074 |
rs3750750 | snp | A/G | 0.0182019 | 0.0936463 | intron-variant | ERCC6 | GRCh38.p7 | 10:49476161 | ACCAAGAGAAGTGAG[A/G]GAGGAAAAGAAACTA | 2074 |
rs3750751 | snp | A/G | 0.208169 | 0.246476 | utr-variant-3-prime | ERCC6 | GRCh38.p7 | 10:49457882 | GCGACGGGCTTTCTT[A/G]TTTCTGCGGTTTGGA | 2074 |
rs3763728 | snp | A/C | 0.422158 | 0.181278 | upstream-variant-2KB | ERCC6 | GRCh38.p7 | 10:49540304 | CACCTGTAATCCCAG[A/C]ACTCTAGGAGGCCGA | 2074 |
rs3763729 | snp | C/T | 0.00318978 | 0.0398085 | upstream-variant-2KB, utr-variant-5-prime | ERCC6 | GRCh38.p7 | 10:49539461 | AGTCGTGGGAGACAA[C/T]AAGAGAGGTCACAGC | 2074 |
rs3763730 | snp | A/C | 0.479421 | 0.0993283 | intron-variant | ERCC6 | GRCh38.p7 | 10:49511454 | TGACGTGACAGAGTG[A/C]GACTTTGTCTCAAAA | 2074 |
rs3793784 | snp | C/G | 0.362523 | 0.223246 | ERCC6 | 10 | allele_origin=G(germline)/C(germline) | 10:49539493 | AAGCAGGACAGCTCT[C/G]CATCCTTCCCGTGTT | 2074 |
rs3793785 | snp | G/T | 0.100588 | 0.200439 | intron-variant | ERCC6 | GRCh38.p7 | 10:49536528 | GCTTTGTGGGATATT[G/T]TGTCTGTAATCCACT | 2074 |
rs3793786 | snp | C/T | 0.483563 | 0.0891524 | intron-variant | ERCC6 | GRCh38.p7 | 10:49535042 | AAATCTCAGTTCCTC[C/T]GTGATATTTCTTGGG | 2074 |
rs3793787 | snp | C/T | 0.0150606 | 0.0854603 | intron-variant, upstream-variant-2KB | ERCC6, PGBD3 | GRCh38.p7 | 10:49525281 | ATAGCTGCAGGTGAC[C/T]GGTAACTGCCATGCT | 2074 |
rs3793788 | snp | A/T | 0.417359 | 0.185718 | intron-variant | ERCC6 | GRCh38.p7 | 10:49502806 | TTGCTGTGGGGACTG[A/T]CCTGTGCAGTATCAG | 2074 |
rs3810944 | snp | A/G | 0.0901694 | 0.192235 | intron-variant | ERCC6 | GRCh38.p7 | 10:49461116 | CAACACCATCTCTCA[A/G]ATAAAACCAATCACT | 2074 |
rs3810945 | snp | C/T | 0.284995 | 0.247539 | intron-variant | ERCC6 | GRCh38.p7 | 10:49461123 | ATCTCTCAAATAAAA[C/T]CAATCACTTCTCCTG | 2074 |
rs3838760 | in-del | -/T | 0.359787 | 0.224604 | intron-variant | ERCC6 | GRCh38.p7 | 10:49502954 | GCACATCAGTTTTTT[-/T]GGAGAGCTTTTTGCA | 2074 |
rs3940160 | snp | A/G | 0.413083 | 0.189483 | intron-variant | ERCC6 | GRCh38.p7 | 10:49464180 | aagttcctcatctcc[A/G]tctgagaccacctca | 2074 |
rs4240505 | snp | C/T | 0.480539 | 0.0967035 | intron-variant | ERCC6 | GRCh38.p7 | 10:49470020 | TGACATTTTAAAAAT[C/T]GTATTTACACCTCTT | 2074 |
rs4240506 | snp | A/G | 0.479583 | 0.0989539 | intron-variant | ERCC6 | GRCh38.p7 | 10:49482963 | TGATGCAAGAATGAT[A/G]AGTAAATGTGTAAAT | 2074 |
rs4240507 | snp | A/C | 0.483563 | 0.0891524 | intron-variant | ERCC6 | GRCh38.p7 | 10:49493931 | GCCCACACAGCAGTG[A/C]CAGCTTGTACACTGT | 2074 |
rs4240508 | snp | A/G | 0.483563 | 0.0891524 | intron-variant | ERCC6 | GRCh38.p7 | 10:49494329 | CTTATAGTATTTTCT[A/G]TATGGTCCTGTTCTA | 2074 |
rs4240509 | snp | A/G | 0.132409 | 0.220618 | intron-variant | ERCC6 | GRCh38.p7 | 10:49494422 | TTTTTAAAAATTATG[A/G]TGAACATTTTTCTAG | 2074 |
rs4240510 | snp | C/T | 0.212728 | 0.247206 | intron-variant | ERCC6 | GRCh38.p7 | 10:49503394 | AGATTTTTTTTAATG[C/T]CATTTTCTTAGTGCT | 2074 |
rs4253001 | snp | C/T | 0.00279162 | 0.0372561 | upstream-variant-2KB | ERCC6 | GRCh38.p7 | 10:49539905 | CATTTCCCTATTGTC[C/T]GACTTCAGGCTTCCA | 2074 |
rs4253002 | snp | A/G | 0.0221141 | 0.102801 | upstream-variant-2KB, intron-variant | ERCC6 | GRCh38.p7 | 10:49539292 | CTGCCTTGCCAGCAG[A/G]GTATTTTTCGCTAGG | 2074 |
rs4253003 | snp | A/G | 0.00636936 | 0.0560724 | upstream-variant-2KB, intron-variant | ERCC6 | GRCh38.p7 | 10:49539164 | CCTCCAAACCACGTG[A/G]TCTTGCCCGTGCTTA | 2074 |
rs4253004 | snp | A/C | 0.21845 | 0.248001 | utr-variant-5-prime, intron-variant | ERCC6 | GRCh38.p7 | 10:49539034 | GCAGGCGCCACGGCC[A/C]GTCGAGCTGGGTTCC | 2074 |
rs4253005 | snp | G/T | 0.0788843 | 0.182262 | utr-variant-5-prime, intron-variant | ERCC6 | GRCh38.p7 | 10:49539025 | ACGGCCCGTCGAGCT[G/T]GGTTCCAAGGCGGCT | 2074 |
rs4253006 | snp | A/G | 0.00358779 | 0.0422022 | utr-variant-5-prime, intron-variant | ERCC6 | GRCh38.p7 | 10:49538969 | TGTGGGCGCTCGCGC[A/G]GCCCTGGGTGAGTGT | 2074 |
rs4253007 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | ERCC6 | GRCh38.p7 | 10:49538875 | gccgcggccccgcgc[C/T]TTGGCCTCGCCGTGG | 2074 |
rs4253008 | snp | C/G | 0.0799831 | 0.183287 | intron-variant | ERCC6 | GRCh38.p7 | 10:49538730 | TTGAGTCCCTGGCCG[C/G]CCAGCGACCCAGCTA | 2074 |
rs4253009 | snp | A/G | 0.488965 | 0.0734569 | intron-variant | ERCC6 | GRCh38.p7 | 10:49533383 | AACATCGCTGTTCCT[A/G]TGCATTACAGTTGAT | 2074 |
rs4253010 | snp | A/G | 0.0391387 | 0.134304 | intron-variant | ERCC6 | GRCh38.p7 | 10:49533358 | GTTGATCTTGCCACT[A/G]TATTATAAATCATTT | 2074 |
rs4253011 | snp | C/T | 0.275197 | 0.248727 | intron-variant | ERCC6 | GRCh38.p7 | 10:49533134 | AGAAGATACGTTGTC[C/T]CTTTTTAGTAAATTA | 2074 |
rs4253012 | snp | C/G | 0.000217008 | 0.0104143 | utr-variant-5-prime | ERCC6 | GRCh38.p7 | 10:49532975 | TTTTCCTTTTAGGTA[C/G]TCTGTAGAGAATGCC | 2074 |
rs4253013 | snp | A/G | 0.20962 | 0.246717 | ERCC6 | 10 | allele_origin=G(germline)/A(germline) | 10:49532554 | GTATCGGTCGGTCCT[A/G]GATGACCTCACGTGA | 2074 |
rs4253014 | snp | A/C | 0.0103295 | 0.0711199 | intron-variant | ERCC6 | GRCh38.p7 | 10:49532216 | CAGGTGTTTCCTATT[A/C]GAGATGCCAGGAATA | 2074 |
rs4253015 | snp | A/G | 0.100231 | 0.200173 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531914 | GAGGACAGGAGAGGG[A/G]AAGTGGGAGGGGTTG | 2074 |
rs4253016 | snp | C/T | 0.0696718 | 0.173152 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531870 | TTGCTGCTTGGCCCC[C/T]GTTGGGCAGTGTTCT | 2074 |
rs4253017 | snp | A/G | 0.0614824 | 0.164198 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531869 | TGCTGCTTGGCCCCC[A/G]TTGGGCAGTGTTCTG | 2074 |
rs4253018 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531814 | AAGGCGAGGGCTGAA[C/T]GGGATGGAGGATGGA | 2074 |
rs4253019 | snp | A/G | 0.0379877 | 0.132479 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531728 | GTTGTTGGTACTTCA[A/G]AGACATGTTTTCTGC | 2074 |
rs4253020 | snp | A/G | 0.00360359 | 0.0422943 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531538 | GGGTCTCCATGCAGA[A/G]TGATGCTAGATGGCT | 2074 |
rs4253021 | in-del | -/GTGCT | 0.149297 | 0.228821 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531325 | GCACCACAAAGTTTA[-/GTGCT]GTAGTAAGTGAATCT | 2074 |
rs4253022 | snp | C/T | 0.00914312 | 0.0669923 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531282 | GAAGAAAAATATTGT[C/T]GCAGATGTGTGATTT | 2074 |
rs4253023 | snp | C/G | 0.234401 | 0.249513 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531217 | TCCAGACTTTGGAAG[C/G]CTTCCGTAACGGGCT | 2074 |
rs4253024 | snp | C/T | 0.483563 | 0.0891524 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531212 | ACTTTGGAAGGCTTC[C/T]GTAACGGGCTTAAAA | 2074 |
rs4253025 | snp | C/T | 0.0517044 | 0.152246 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531164 | TTTCATGTAAAAGGA[C/T]AACTTATTGCACATT | 2074 |
rs4253026 | snp | C/T | 0.12932 | 0.218944 | intron-variant | ERCC6 | GRCh38.p7 | 10:49531070 | GCTTACAAATGGGAA[C/T]GAGCTGATCTAAATC | 2074 |
rs4253027 | snp | A/G | 0.0460249 | 0.144548 | synonymous-codon | ERCC6 | GRCh38.p7 | 10:49530735 | AGATTCTGTAAAACG[A/G]CAGAAGTATAATAAG | 2074 |
rs4253028 | snp | C/T | 0.275732 | 0.248672 | intron-variant | ERCC6 | GRCh38.p7 | 10:49530443 | TTACATCCCGACAAA[C/T]CCATCGTAAATTGAA | 2074 |
rs4253029 | snp | A/G | 0.0387552 | 0.1337 | intron-variant | ERCC6 | GRCh38.p7 | 10:49530410 | tattgttagtcaaaa[A/G]tgcattaaatacact | 2074 |
rs4253030 | snp | A/G | 0.0228947 | 0.104514 | intron-variant | ERCC6 | GRCh38.p7 | 10:49530401 | tcaaaaatgcattaa[A/G]tacactgaaaaacct | 2074 |
rs4253031 | snp | C/G | 0.00336134 | 0.0408579 | intron-variant | ERCC6 | GRCh38.p7 | 10:49530005 | AGAGCTTGGCCCTTC[C/G]TCCCACCTTGGGTGT | 2074 |
rs4253032 | snp | C/T | 0.00447425 | 0.0470862 | intron-variant | ERCC6 | GRCh38.p7 | 10:49529887 | TATGAAGTTTGAAAC[C/T]TTTTTTAAGGATTTA | 2074 |
rs4253033 | snp | A/G | 0.0722614 | 0.17581 | intron-variant | ERCC6 | GRCh38.p7 | 10:49529849 | CTTTGTGAGGTCTGA[A/G]ACATTTTTTATGATT | 2074 |
rs4253034 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | ERCC6 | GRCh38.p7 | 10:49529622 | ACTCACCAGTCTGTT[A/G]CCTGCACTACCCCAT | 2074 |
rs4253035 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | ERCC6 | GRCh38.p7 | 10:49529173 | CCAGGTACCACAAGC[C/T]CAGTTCATTGGGCCT | 2074 |
rs4253036 | snp | G/T | 0.00953873 | 0.0683987 | intron-variant | ERCC6 | GRCh38.p7 | 10:49529161 | AGCCCAGTTCATTGG[G/T]CCTCCCCAGTGAAGC | 2074 |
rs4253037 | snp | A/G | 0.0513262 | 0.151752 | intron-variant | ERCC6 | GRCh38.p7 | 10:49529096 | AGGGAACAAGACAAA[A/G]AGGAGTCTGGCGTGG | 2074 |
rs4253038 | snp | C/T | 0.373799 | 0.217195 | intron-variant | ERCC6 | GRCh38.p7 | 10:49528933 | TTATTTCTTATCTTA[C/T]GGCCTGTTGACTTCC | 2074 |
rs4253039 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | ERCC6 | GRCh38.p7 | 10:49528738 | TGCAGGCATGCCTGT[C/G]TGCTGGGAATATTCA | 2074 |
rs4253040 | snp | A/T | 0.289424 | 0.246872 | intron-variant | ERCC6 | GRCh38.p7 | 10:49528282 | AGTGTCAAAACAGAT[A/T]TAGGAAAATTTTATT | 2074 |
rs4253041 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | ERCC6 | GRCh38.p7 | 10:49528274 | AACAGATTTAGGAAA[A/G]TTTTATTCTCTACAC | 2074 |
rs4253042 | snp | A/G | 0.275197 | 0.248727 | intron-variant, upstream-variant-2KB | ERCC6, PGBD3 | GRCh38.p7 | 10:49525181 | TGTCTCTTGAATTTA[A/G]GTCCATCTGAATGTT | 2074 |
rs4253043 | snp | G/T | 0.289942 | 0.246789 | intron-variant, upstream-variant-2KB | ERCC6, PGBD3 | GRCh38.p7 | 10:49525029 | TTTGGATGGCAGAGA[G/T]TATATTTATAGTGAA | 2074 |
rs4253044 | snp | C/T | 8.23649e-05 | 0.00641683 | synonymous-codon, upstream-variant-2KB | ERCC6, PGBD3 | GRCh38.p7 | 10:49524545 | TAATAAAAGAGCAGC[C/T]AGAAAAGCTCCAGCC | 2074 |
rs4253045 | snp | A/G | 0.0048893 | 0.0492011 | synonymous-codon, upstream-variant-2KB | ERCC6, PGBD3 | GRCh38.p7 | 10:49524284 | Agaggaggaggaaga[A/G]gaggaagatgacgag | 2074 |