SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs12615 | snp | A/G | 0.0324737 | 0.123217 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783620 | GCCTGCTCCCAGCCC[A/G]GCGCCTCCCACCCCT | 1762 |
rs617988 | snp | C/G | 0.499631 | 0.0135733 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783942 | TCACTCCTGGGGAGA[C/G]ACTCCCCGCCCCTGC | 1762 |
rs643226 | snp | A/T | 0 | 0 | upstream-variant-2KB, downstream-variant-500B | DMPK, DMWD | GRCh38.p7 | 19:45782977 | AAAAAAAAAGCTGGT[A/T]TAAAGCAGAGAGCCT | 1762 |
rs965373 | snp | C/T | | | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45793110 | ATTTTTTTTTTTTTT[C/T]CCCCCACGACAAAGA | 1762 |
rs1865116 | snp | A/G | 0.49907 | 0.0215454 | intron-variant | DMWD | GRCh38.p7 | 19:45791252 | AACCACAGACGGGAA[A/G]GGGACCCAAATCACA | 1762 |
rs2070736 | snp | G/T | 0.361263 | 0.223876 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783456 | CAAAGTCCTCGGTGT[G/T]TTTTAAATTATCAGA | 1762 |
rs3760843 | snp | A/T | 0.219673 | 0.248154 | intron-variant | DMWD | GRCh38.p7 | 19:45785448 | TCTGAGAGGTCTTGT[A/T]CTGAGACACTAAGAT | 1762 |
rs4630667 | snp | A/G | | | intron-variant | DMWD | GRCh38.p7 | 19:45790316 | actccgccttaaaaa[A/G]aaaaaaaaaattaaa | 1762 |
rs7246377 | snp | A/G | 0.475965 | 0.106957 | intron-variant | DMWD | GRCh38.p7 | 19:45789001 | CAGGTCTTTATTTCA[A/G]TATCACCTCTTAGTG | 1762 |
rs8100208 | snp | C/G | 0.227664 | 0.249 | intron-variant | DMWD | GRCh38.p7 | 19:45787357 | gaactatgcatgcga[C/G]ggatctaggtgtgcg | 1762 |
rs8109951 | snp | C/T | 0.438509 | 0.164208 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786245 | GGGCAGTGGAGAGAG[C/T]GGGGCGCCCCCGGCC | 1762 |
rs8110017 | snp | C/G | 0.231643 | 0.249325 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786134 | GGTGCGGGCCAGGGG[C/G]GGGTGCGGGTAGAGC | 1762 |
rs9676288 | snp | G/T | 0.41325 | 0.18934 | intron-variant | DMWD | GRCh38.p7 | 19:45788802 | gttgtggtggtgcat[G/T]catgtagtcccagct | 1762 |
rs11545326 | snp | C/T | 0.205141 | 0.245942 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786251 | AGGCTCGGCCGGGGG[C/T]GCCCCGCTCTCTCCA | 1762 |
rs12973583 | snp | A/G | | | intron-variant | DMWD | GRCh38.p7 | 19:45790666 | tcaaaataaataaaT[A/G]aaagaaagaaagaaa | 1762 |
rs12975606 | snp | A/T | | | intron-variant | DMWD | GRCh38.p7 | 19:45790665 | ctcaaaataaataaa[A/T]aaaagaaagaaagaa | 1762 |
rs12978125 | snp | G/T | | | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45792850 | CCGGAAAAGGTGGGG[G/T]CGTCGCCCGGGCAAC | 1762 |
rs12983356 | snp | C/G | 0.000153988 | 0.00877328 | intron-variant | DMWD | GRCh38.p7 | 19:45784723 | tctgtgaaCTACGGA[C/G]ACAGAGGGGTCTCTT | 1762 |
rs17571725 | snp | C/T | 0.411578 | 0.190768 | intron-variant | DMWD | GRCh38.p7 | 19:45787564 | AGTAGGAAATTTCTT[C/T]ACGGAAAGGCAGCTC | 1762 |
rs34062941 | in-del | -/A | | | frameshift-variant | DMWD | GRCh38.p7 | 19:45792732 | GCCGGGGCCCGAGCC[-/A]GCCCTCCGCGCCGCC | 1762 |
rs34212898 | snp | C/T | 0.0539704 | 0.155153 | intron-variant | DMWD | GRCh38.p7 | 19:45787877 | TCCAGACCAGCCTAG[C/T]CAATATGGTGAAATA | 1762 |
rs34321594 | in-del | -/AAG | 0.223522 | 0.248594 | upstream-variant-2KB, downstream-variant-500B | DMPK, DMWD | GRCh38.p7 | 19:45782732 | GGTGTGATGAATTTC[-/AAG]AAGAACCTGCCCATT | 1762 |
rs35580054 | in-del | -/T | | | intron-variant | DMWD | GRCh38.p7 | 19:45789021 | CCTCTTAGTGAGGGC[-/T]TTTCCTGACCACCCT | 1762 |
rs55681266 | snp | A/C | 0.358303 | 0.225323 | intron-variant | DMWD | GRCh38.p7 | 19:45788414 | TCACTCTAGTCACTT[A/C]TGCCTTCCAGGGCTC | 1762 |
rs55729252 | snp | A/C/G | | | intron-variant | DMWD | GRCh38.p7 | 19:45791530 | AAGCCTAACATCCTA[A/C/G]CATTCTCTTCACTTT | 1762 |
rs55787208 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45794055 | CAAGTCTTTTGCATT[A/C]GACCACGTGGAATTC | 1762 |
rs58245698 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | DMWD | GRCh38.p7 | 19:45784829 | GGACTCAGGACTCTA[A/C]GATTCCAAAACTGAG | 1762 |
rs58631999 | in-del | -/T | | | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783008 | TTTTTTTTTTTTTTT[-/T]CCCAGGAGGTGGGGA | 1762 |
rs58685080 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | DMWD | GRCh38.p7 | 19:45789037 | TTTCCTGACCACCCT[A/G]CTAAACTCTCCAAGC | 1762 |
rs60934333 | in-del | -/T | 0 | 0 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45794438 | TTTTTTTTTTTTTTT[-/T]GAGACAGAGTCTCGC | 1762 |
rs61738390 | snp | A/G | 0.00132412 | 0.0256965 | synonymous-codon | DMWD | GRCh38.p7 | 19:45785831 | ACCACTGCCACTGCC[A/G]CCACTGCCACCCCGG | 1762 |
rs61744161 | snp | A/G | 0.0149393 | 0.0851263 | synonymous-codon | DMWD | GRCh38.p7 | 19:45785819 | GGGCTTCTCCCCACC[A/G]CTGCCACTGCCGCCA | 1762 |
rs61744166 | snp | A/G | 0.0399604 | 0.135585 | synonymous-codon | DMWD | GRCh38.p7 | 19:45785801 | GCGGGGAACAGGGCC[A/G]CTGGGCTTCTCCCCA | 1762 |
rs61744436 | snp | A/C/G | 0.0105065 | 0.0717157 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786614 | CAGGTGCCGGCCATC[A/C/G]GGCGAGAAGGCGAAC | 1762 |
rs62111758 | snp | C/T | 0 | 0 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783011 | TTTTTTTTTTTTTCC[C/T]AGGAGGTGGGGAAGG | 1762 |
rs62111759 | snp | A/T | 0.485799 | 0.0830599 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45792972 | TGGGCGCGGCCTTTG[A/T]GCCTGTGACCGACTT | 1762 |
rs67146211 | in-del | -/C/T | 0 | 0 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45793111 | TTTTTTTTTTTTTTT[-/C/T]CCCCCACGACAAAGA | 1762 |
rs71276210 | in-del | -/AAA/G/GG | 0.5 | 0 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45793109 | TCTTTGTCGTGGGGG[-/AAA/G/GG]AAAAAAAAAAAAATC | 1762 |
rs72380970 | in-del | -/GAA | | | upstream-variant-2KB, downstream-variant-500B | DMPK, DMWD | GRCh38.p7 | 19:45782737 | GATGAATTTCAAGAA[-/GAA]CCTGCCCATTGCTGA | 1762 |
rs72626215 | snp | A/G | 0.364581 | 0.222196 | intron-variant | DMWD | GRCh38.p7 | 19:45790878 | TGAGAAGGCAGAGAA[A/G]TTGGGGGCTCTGGGG | 1762 |
rs73044292 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | DMWD | GRCh38.p7 | 19:45787012 | GCCCAGGTCCTCCTC[A/G]GAGAGAAGCTCCCAA | 1762 |
rs73044299 | snp | C/T | 0.18 | 0.24 | intron-variant | DMWD | GRCh38.p7 | 19:45789391 | AGAAGCCAAGAGCAG[C/T]CCCTGCCCGCGGATA | 1762 |
rs73045960 | snp | A/G | 0.00835141 | 0.0640778 | intron-variant | DMWD | GRCh38.p7 | 19:45791965 | CACCTCTGGGCTTGC[A/G]TCACCTCATGATTCC | 1762 |
rs73045962 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | DMWD | GRCh38.p7 | 19:45792069 | AATAGTCACCATCCC[A/G]GAACTCCTACGCATA | 1762 |
rs75167736 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB, intron-variant | DMPK, DMWD | GRCh38.p7 | 19:45784394 | CCAAAGCTGCTGCCA[C/T]CCTGGCCTTGCCCTT | 1762 |
rs75285856 | snp | A/G | 0.0248432 | 0.108648 | intron-variant | DMWD | GRCh38.p7 | 19:45791490 | ACCCCCAAACCTTGA[A/G]GTCACCCAAATTTCC | 1762 |
rs75448999 | snp | A/C | 0.0345262 | 0.126772 | intron-variant | DMWD | GRCh38.p7 | 19:45787433 | TCATCCCAAAACCAT[A/C]CCCCCAACAGTCTGT | 1762 |
rs75897117 | snp | A/T | 0.0622301 | 0.165053 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45793859 | TCTCTCTAAAAAAAA[A/T]AAAAAAAGAAAGAAA | 1762 |
rs76141709 | snp | A/G | 0.0199565 | 0.0978774 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786080 | CCTCGAGCTGCTGGC[A/G]GCCGGTGGCGTGGTG | 1762 |
rs76851438 | snp | C/T | 0.5 | 0 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45793109 | GATTTTTTTTTTTTT[C/T]TCCCCCACGACAAAG | 1762 |
rs77078709 | snp | A/G | 0 | 0 | intron-variant | DMWD | GRCh38.p7 | 19:45790370 | TTAAAAAAAAAAAAA[A/G]GAACCGGGCATGGTG | 1762 |
rs77249772 | snp | C/G | 0.0626037 | 0.165477 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45792886 | TTCGATTGGCACCCA[C/G]ATCCGGAGGCGGGAC | 1762 |
rs77544670 | in-del | -/ATT | | | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45792948 | GGACTGTGGGCGGGG[-/ATT]CGAGAAGGTGGGCGC | 1762 |
rs77753641 | snp | A/G | 0.000182051 | 0.009539 | synonymous-codon | DMWD | GRCh38.p7 | 19:45784707 | GGCCTCGGTCTCCTC[A/G]TCTGTGAACTACGGA | 1762 |
rs78663775 | snp | A/C | 0.375 | 0.216506 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45794108 | CCCTGATCCAAGCTT[A/C]TCCTCTACCCAAGCC | 1762 |
rs79382755 | snp | C/T | | | intron-variant | DMWD | GRCh38.p7 | 19:45790435 | GAGGTGGGCAGATCA[C/T]GAGGTCAGGAGATCG | 1762 |
rs111350352 | snp | A/C | | | splice-donor-variant | DMWD | GRCh38.p7 | 19:45784639 | CTCAGGGACAGTCCT[A/C]CCTCTACCACTGACT | 1762 |
rs112146489 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | DMWD | GRCh38.p7 | 19:45790076 | GAATGGCGTGAACCC[A/G]GGAGGCAGAGGTTGC | 1762 |
rs112728052 | snp | G/T | | | intron-variant | DMWD | GRCh38.p7 | 19:45784638 | ACTCAGGGACAGTCC[G/T]ACCTCTACCACTGAC | 1762 |
rs112831604 | snp | C/T | 0.0103295 | 0.0711199 | intron-variant | DMWD | GRCh38.p7 | 19:45785388 | TCACACCCACCCCTC[C/T]TTCTGCTGCCTGCTG | 1762 |
rs114137207 | snp | A/G | 0.040671 | 0.13668 | intron-variant | DMWD | GRCh38.p7 | 19:45788884 | CAGTGAACGAAGATC[A/G]TACCACTGCACTCCA | 1762 |
rs114255452 | snp | A/G | 0.0614824 | 0.164198 | intron-variant | DMWD | GRCh38.p7 | 19:45787497 | TGCCAAAATGGTTGG[A/G]GACCACTGTATCTGT | 1762 |
rs114336690 | snp | A/G | 0.0614824 | 0.164198 | intron-variant | DMWD | GRCh38.p7 | 19:45785148 | TGCCTTCAGCAGGAG[A/G]CTCAGATCCTGAGTC | 1762 |
rs114682934 | snp | A/G | 0.0547005 | 0.156071 | intron-variant | DMWD | GRCh38.p7 | 19:45790749 | GCCTGGGTACAGTAA[A/G]GGCAGCTGTCATTAG | 1762 |
rs114952745 | snp | A/G | 0.0614824 | 0.164198 | intron-variant | DMWD | GRCh38.p7 | 19:45791294 | CAAAAAAGATGGTAA[A/G]GATCCCCCTTGACCA | 1762 |
rs115379629 | snp | C/T | 0.0614824 | 0.164198 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783955 | GTCTCTCCCCAGGAG[C/T]GACCAGTCACATGCT | 1762 |
rs115678703 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | DMWD | GRCh38.p7 | 19:45787615 | TTTGGTTCACTATTC[C/T]TTAAAGCAGTGCACA | 1762 |
rs116185596 | snp | A/G | 0.0614824 | 0.164198 | intron-variant | DMWD | GRCh38.p7 | 19:45790508 | ACTACAATAAATTAG[A/G]CGGGCGTGGCAGCAG | 1762 |
rs116401957 | snp | C/G | 0.040671 | 0.13668 | intron-variant | DMWD | GRCh38.p7 | 19:45788920 | GACGACAGAGTGAGA[C/G]CCTATCTCAGGAAAA | 1762 |
rs116978359 | snp | A/T | 0.00159617 | 0.0282053 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45794098 | TCCTTGTTCTCCCTG[A/T]TCCAAGCTTCTCCTC | 1762 |
rs117011718 | snp | A/G | 0.0162398 | 0.0886349 | intron-variant | DMWD | GRCh38.p7 | 19:45787710 | TAGACAAAAAACCTC[A/G]GCATCTGCCCCTCTT | 1762 |
rs117313081 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | DMWD | GRCh38.p7 | 19:45784942 | TCCGAACTTACAAGA[C/T]GCCAGGCCTGATTCG | 1762 |
rs117545045 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | DMWD | GRCh38.p7 | 19:45790709 | AAGGAGTAAAGTATT[C/T]AGCACAAGGGTAACA | 1762 |
rs117781317 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | DMWD | GRCh38.p7 | 19:45789306 | TGACTGTTCCGTTCA[C/T]TCCCTTCAGCCATTC | 1762 |
rs137945014 | snp | A/G | 0.00993419 | 0.0697739 | intron-variant | DMWD | GRCh38.p7 | 19:45791429 | TCACCACTCCATCCT[A/G]TAACCTCAGCAACTC | 1762 |
rs138308126 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | DMWD | GRCh38.p7 | 19:45788494 | AAGGCAAAATCTCTC[C/T]GTGACCTTCCAGACT | 1762 |
rs138963867 | snp | A/C/G | 0.000858894 | 0.0207061 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786302 | CTCCTCCTCCTCTTC[A/C/G]CCGCTCCGCTCCCCA | 1762 |
rs138980110 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | DMWD | GRCh38.p7 | 19:45787591 | GCTCCCCAAAGGAAG[C/T]GATCTTTGTTTGGTT | 1762 |
rs139173979 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | DMWD | GRCh38.p7 | 19:45789575 | AAGTCACATGATGAG[A/T]AAATGGTGCAGCAGG | 1762 |
rs139451187 | snp | C/T | 1.92569e-05 | 0.00310291 | missense | DMWD | GRCh38.p7 | 19:45792353 | CAGCCTGGGTAGAAA[C/T]AGAGCTCACGGCCCA | 1762 |
rs139517492 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783302 | TCTTTCCAGGGTGGA[C/T]GGTTCTCCAGAGTGG | 1762 |
rs139565788 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB, intron-variant | DMPK, DMWD | GRCh38.p7 | 19:45784439 | CCCCCCAGAGGCCAC[C/T]GCTCTAGGCTGGGAA | 1762 |
rs140035004 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45794062 | TTTGCATTCGACCAC[A/G]TGGAATTCCTCTTTC | 1762 |
rs141123591 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | DMWD | GRCh38.p7 | 19:45791248 | GGGCAACCACAGACG[A/G]GAAGGGGACCCAAAT | 1762 |
rs141135460 | snp | G/T | 0.00398564 | 0.0444627 | upstream-variant-2KB, utr-variant-3-prime | DMPK, DMWD | GRCh38.p7 | 19:45783036 | GGAAGGGGTGGTGAG[G/T]ACAGGACCAGGAGGG | 1762 |
rs141200665 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | DMWD | GRCh38.p7 | 19:45789916 | AGCACTTTGGGAGGC[C/T]GAGGCGGGCAGATCA | 1762 |
rs141979437 | snp | C/G/T | 5.33224e-05 | 0.00516317 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786260 | CGGGGCGCCCCCGGC[C/G/T]GAGCCTGTGCCCGCA | 1762 |
rs142153125 | snp | C/T | | | intron-variant | DMWD | GRCh38.p7 | 19:45789399 | AGAGCAGTCCCTGCC[C/T]GCGGATAAGGTCGTT | 1762 |
rs142180834 | snp | C/G | 4.9467e-05 | 0.00497303 | synonymous-codon | DMWD | GRCh38.p7 | 19:45790980 | CGCTGAGAAGCCCAC[C/G]AGCAGCGAGATGGTC | 1762 |
rs142695929 | snp | G/T | 0.00795532 | 0.062565 | upstream-variant-2KB | DMWD | GRCh38.p7 | 19:45793507 | GCCCCAGTGTCCCAG[G/T]GATCCACTCGTAACC | 1762 |
rs142751445 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | DMWD | GRCh38.p7 | 19:45785228 | TTTGGCCTGAAGTAC[A/T]CAAAAAAGTTTCACG | 1762 |
rs142998214 | snp | A/C/G | 1.66665e-05 | 0.00288669 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786461 | GACCAGGTCATCTTC[A/C/G]CCACCCGTCACCACG | 1762 |
rs143042321 | in-del | -/A | 0.214541 | 0.247473 | upstream-variant-2KB, downstream-variant-500B | DMPK, DMWD | GRCh38.p7 | 19:45782754 | ACCTGCCCATTGCTG[-/A]AACAGGGCCAATTGA | 1762 |
rs143398622 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | DMWD | GRCh38.p7 | 19:45791481 | TATTCCAAGACCCCC[A/C]AACCTTGAGGTCACC | 1762 |
rs143568210 | snp | C/T | 0.021333 | 0.101051 | intron-variant | DMWD | GRCh38.p7 | 19:45788951 | AAAAAAAAAAAAATG[C/T]CCTTCCCCAGGCAAC | 1762 |
rs143725950 | snp | C/T | 0.0581099 | 0.160244 | intron-variant | DMWD | GRCh38.p7 | 19:45789932 | GAGGCGGGCAGATCA[C/T]GAGGTCAGGAGATCG | 1762 |
rs143742152 | snp | C/T | 0.00232988 | 0.0340516 | intron-variant | DMWD | GRCh38.p7 | 19:45790743 | CACAGGGCCTGGGTA[C/T]AGTAAAGGCAGCTGT | 1762 |
rs143916242 | snp | A/G | 0.000317558 | 0.0125968 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786632 | CGAGAAGGCGAACTC[A/G]TTGAGGGGCCCCTCA | 1762 |
rs144009493 | snp | C/T | 5.02702e-05 | 0.00501324 | synonymous-codon | DMWD | GRCh38.p7 | 19:45786668 | CGCCCACTTGGCCAG[C/T]GGGTTGCGGGGTGCC | 1762 |
rs144146317 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | DMWD | GRCh38.p7 | 19:45789671 | TATTTACTAGCCTCA[A/G]TTCTCTAATCTGCAA | 1762 |