SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs8050 | snp | G/T | 0.0644693 | 0.167566 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35649302 | TTACTGGAGTCTGTG[G/T]TTGTGTACAGGTATG | 8904 |
rs11815 | snp | A/T | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | CPNE1 | GRCh38.p7 | 20:35626197 | AATCCTGTGTCCCAG[A/T]GGTCCCTNTGGGCCA | 8904 |
rs14836 | snp | A/C | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | CPNE1 | GRCh38.p7 | 20:35626089 | TGCTCTTGATCCCAC[A/C]TTTGCTCCTGACAAC | 8904 |
rs926994 | snp | A/G | 0.162581 | 0.234218 | intron-variant | CPNE1 | GRCh38.p7 | 20:35633101 | CCTCCACCCCTAGGT[A/G]AGCTCACTGGCACAG | 8904 |
rs1040694 | snp | C/T | 0.00557542 | 0.0525036 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35651741 | CTGACTAACCTAAAT[C/T]GTGGCGGTCAAACCA | 8904 |
rs1040695 | snp | C/T | 0.396364 | 0.202676 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35656907 | ATCACTTCTCAAGAA[C/T]ATTAGAAGGGGCAAG | 8904 |
rs1118233 | snp | A/T | 0.188631 | 0.242351 | intron-variant | CPNE1 | GRCh38.p7 | 20:35640427 | AATCTTCCAGAACCA[A/T]ATTAAATATCACATT | 8904 |
rs2180279 | snp | A/T | 0 | 0 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35651483 | CATACGGATCTTTTA[A/T]TCTATACTACTACTG | 8904 |
rs2207889 | snp | A/C | 0.397994 | 0.201489 | intron-variant | CPNE1 | GRCh38.p7 | 20:35636976 | TTTGTGAACTCCATA[A/C]TTCTGTATTGTTTCA | 8904 |
rs2230219 | snp | C/T | 0.11187 | 0.208375 | synonymous-codon, nc-transcript-variant | CPNE1 | GRCh38.p7 | 20:35631558 | ATGCTCCGATTATGA[C/T]AGTGACGGGTCACAT | 8904 |
rs2273356 | snp | A/G | 0.00348155 | 0.0415771 | intron-variant | CPNE1 | GRCh38.p7 | 20:35631786 | TGATGACCTGAAGGT[A/G]GAGGCCAAGGCCTCC | 8904 |
rs2295355 | snp | A/G | 0.410061 | 0.192043 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35664732 | GCCCCGCACAGCCCC[A/G]CCCGTTCAGGGGCTG | 8904 |
rs2295356 | snp | A/G | 0.187053 | 0.241946 | utr-variant-5-prime, nc-transcript-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35664934 | CGGCTCCGCGTTCCA[A/G]AAGGGGGAGGAACGG | 8904 |
rs2425068 | snp | C/T | 0.111388 | 0.208055 | splice-acceptor-variant, synonymous-codon, nc-transcript-variant | CPNE1 | GRCh38.p7 | 20:35626801 | CAACAGCATGAAGTA[C/T]TGCTGGGGACAAGCC | 8904 |
rs3787164 | snp | A/G | 0.395635 | 0.2032 | intron-variant | CPNE1 | GRCh38.p7 | 20:35640944 | ACCCTTCCATTTGGG[A/G]CTAGTCGGGTGTTGC | 8904 |
rs3787165 | snp | C/T | 0.395818 | 0.203069 | intron-variant | CPNE1 | GRCh38.p7 | 20:35641024 | CTACCACTTAGGAGT[C/T]ACCCTTTATAGTTTG | 8904 |
rs3787166 | snp | A/T | 0.351418 | 0.228505 | intron-variant | CPNE1 | GRCh38.p7 | 20:35641150 | TATAACTTAAAATTC[A/T]CAAAATGTCAGAAAT | 8904 |
rs3787168 | snp | C/T | 0.410568 | 0.191619 | intron-variant | CPNE1 | GRCh38.p7 | 20:35645356 | CAGGAAACTACACTA[C/T]GACAAAGACTAGTTT | 8904 |
rs3838013 | in-del | -/AAG | 0.352504 | 0.228019 | intron-variant | CPNE1 | GRCh38.p7 | 20:35637597 | TTGCCTGTTTTCCCC[-/AAG]AAGGATTTTCTTGTC | 8904 |
rs6058283 | snp | A/G | 0.391954 | 0.205789 | intron-variant | CPNE1 | GRCh38.p7 | 20:35628354 | gatgtgtgtgtgatg[A/G]gtatttgtatagtct | 8904 |
rs6058284 | snp | A/G | 0.163236 | 0.234461 | intron-variant | CPNE1 | GRCh38.p7 | 20:35629917 | ACCCACCTTGGCCTC[A/G]CAACTGAGTGCTAGG | 8904 |
rs6058285 | snp | C/G | 0.396364 | 0.202676 | intron-variant | CPNE1 | GRCh38.p7 | 20:35630069 | GAGGCCAAGGCAGGT[C/G]AATCACCTGAGGTCA | 8904 |
rs6058286 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35635994 | CCTACCCAAACTGAC[C/T]TAACTCTGTGGAATT | 8904 |
rs6058287 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35637180 | TACCTAACTTCAGGC[C/T]TTATTAGTCTCTTGC | 8904 |
rs6058288 | snp | C/T | 0.395635 | 0.2032 | intron-variant | CPNE1 | GRCh38.p7 | 20:35640758 | ACAGCAGGTGCTCTA[C/T]TGATATCTGTTAAAT | 8904 |
rs6058289 | snp | C/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35641564 | ggatagtatctattt[C/G]tgaagattaatataa | 8904 |
rs6058290 | snp | A/G | 0.395453 | 0.203331 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35659780 | CTTCCAAACTGGTGA[A/G]GTTATTAACAAGTCA | 8904 |
rs6058291 | snp | A/G | 0.410737 | 0.191478 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35659847 | CAAAGGTCATTTTTT[A/G]CTTTTTATTTTTTTT | 8904 |
rs6058292 | snp | C/T | 0.162909 | 0.23434 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35660847 | TGCAAACTCAAAAGA[C/T]ACCGTATGTCTATCT | 8904 |
rs6058293 | snp | A/T | 0.409212 | 0.192748 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35660969 | CCTTTAAAAGGAAGA[A/T]ATTTCTCATTCCACA | 8904 |
rs6060516 | snp | C/T | 0.392325 | 0.205532 | intron-variant | CPNE1 | GRCh38.p7 | 20:35626446 | GTCTGTATTTCATGC[C/T]CAAGAACCCAACCAT | 8904 |
rs6060517 | snp | C/T | 0.162581 | 0.234218 | intron-variant | CPNE1 | GRCh38.p7 | 20:35628418 | aaaatagtacttgta[C/T]agtggagaaacctgg | 8904 |
rs6060518 | snp | A/C | 0.394354 | 0.204112 | intron-variant | CPNE1 | GRCh38.p7 | 20:35629387 | AAAAGGTTTGGCCCT[A/C]AACAAAAGGGCTTGG | 8904 |
rs6060519 | snp | A/G | 0.39709 | 0.20215 | intron-variant | CPNE1 | GRCh38.p7 | 20:35629461 | TCCACTGATGCTCAA[A/G]TAAGTACCTGTTAGC | 8904 |
rs6060520 | snp | C/T | 0.163236 | 0.234461 | intron-variant | CPNE1 | GRCh38.p7 | 20:35629791 | AGCCTCCTGAGTAGC[C/T]AGAACTACAGGCGCC | 8904 |
rs6060521 | snp | C/T | | | intron-variant | CPNE1 | GRCh38.p7 | 20:35629847 | taattttagtagaga[C/T]ggggttttgccatgt | 8904 |
rs6060522 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35630384 | CCTTTTACTCATGCA[A/G]GCTTGCCCCTCTTTG | 8904 |
rs6060523 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35630589 | TATAGGAGCTATGGA[A/G]TCCTGAGCACTTGCT | 8904 |
rs6060524 | snp | G/T | 0.188 | 0.24219 | intron-variant | CPNE1 | GRCh38.p7 | 20:35633233 | CTTAATCCCAATAGG[G/T]CTGTCCAAACCCAGA | 8904 |
rs6060525 | snp | C/T | 0.468047 | 0.122292 | intron-variant | CPNE1 | GRCh38.p7 | 20:35634890 | GACTACAGGTGTGCA[C/T]CACCACACCCAGCTA | 8904 |
rs6060526 | snp | C/T | 0.3512 | 0.228601 | intron-variant | CPNE1 | GRCh38.p7 | 20:35637380 | TGGTAGTTTTGCAAT[C/T]TGGTAACCCTGCATC | 8904 |
rs6060527 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35638603 | agcttatcaaaaaac[C/T]taacaaacacctagc | 8904 |
rs6060528 | snp | A/C | 0.273049 | 0.248935 | intron-variant | CPNE1 | GRCh38.p7 | 20:35639104 | TACAAAAAAAAAAAA[A/C]AAAACCCAACAACCC | 8904 |
rs6060529 | snp | C/T | 0.352504 | 0.228019 | intron-variant | CPNE1 | GRCh38.p7 | 20:35639578 | TGACCTGAGGTGATC[C/T]GCCCGCCTTGGCCTC | 8904 |
rs6060530 | snp | A/C | 0.352287 | 0.228117 | intron-variant | CPNE1 | GRCh38.p7 | 20:35639741 | GGTAAGATTACAGGC[A/C]ACAACTGGAGCTGCT | 8904 |
rs6060532 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35642680 | CATCAGCAGCTCTAA[A/G]GATATTCCTCACAGG | 8904 |
rs6060533 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35642833 | TCCATATACTACTAA[A/G]GAGTCAGGCTGACAC | 8904 |
rs6060534 | snp | A/G | 0.00970851 | 0.0689927 | intron-variant | CPNE1 | GRCh38.p7 | 20:35642933 | AGAAGATGGCCACAA[A/G]GTTTTCCACTTTACT | 8904 |
rs6060535 | snp | C/T | 0.18989 | 0.242666 | intron-variant | CPNE1 | GRCh38.p7 | 20:35647600 | TTTCCTCCTTCTGGA[C/T]TCCAGTGATAGAGCA | 8904 |
rs6060536 | snp | C/T | 0.163236 | 0.234461 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35649065 | AATGTTGTGGCCATA[C/T]TGGCAACAAGCCATT | 8904 |
rs6060537 | snp | C/T | | | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35649471 | ACTGAATATTACTAC[C/T]TGAAATTTTAAATAA | 8904 |
rs6060538 | snp | A/G | 0 | 0 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35650905 | CTACGCTGATTTGTA[A/G]GAAATGTTGGGGATG | 8904 |
rs6060539 | snp | C/T | 0.409382 | 0.192607 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35651460 | ACACGTATCAATCTA[C/T]GAACCAGCATACGGA | 8904 |
rs6060540 | snp | C/T | 0.162909 | 0.23434 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35659927 | TATTAAGATTACCTA[C/T]GACTACTTTTCCAAA | 8904 |
rs6060541 | snp | C/T | 0.409212 | 0.192748 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35660144 | CAAATATGTAATCAA[C/T]ACAATCAAAAGTCTA | 8904 |
rs6060542 | snp | C/T | 0.410905 | 0.191336 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35661139 | CATACCAAGGAAAAC[C/T]ATGCAGAAAGTTGAT | 8904 |
rs6060543 | snp | C/T | 0 | 0 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35662270 | CAAAAATGTTGCTAC[C/T]TTCATTTTCACTTCA | 8904 |
rs6060544 | snp | C/T | 0 | 0 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35662307 | AATTATACTTCTAAC[C/T]TAAACAACCACATTC | 8904 |
rs6060545 | snp | C/T | 0.163564 | 0.234582 | upstream-variant-2KB | RBM12, CPNE1 | GRCh38.p7 | 20:35665881 | CCATTGCACTCCACC[C/T]TGGATGACAAAAGCG | 8904 |
rs6087727 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35631418 | AAGGACTCGAGCTGC[C/T]TTCTCCTTCCTCTCT | 8904 |
rs6087728 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35646522 | cccaccacacccagc[C/T]TGACAAGTCTTATCC | 8904 |
rs6087729 | snp | C/G | | | intron-variant | CPNE1 | GRCh38.p7 | 20:35647271 | gtgagctgagatcac[C/G]ccatcgcactccagc | 8904 |
rs6087730 | snp | A/C | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35647380 | tgtagaggggccatg[A/C]taatcttctctgttt | 8904 |
rs6088907 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35628000 | aaataaaaaaactaa[A/G]gccgggcgcagtggc | 8904 |
rs6119633 | snp | C/G | 0.163236 | 0.234461 | intron-variant | CPNE1 | GRCh38.p7 | 20:35629704 | ATCACCCAGGCTGGA[C/G]TATAGTGGCATGATC | 8904 |
rs6119634 | snp | C/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35634718 | tttcagccactttgt[C/G]actcctcaaataagc | 8904 |
rs6119635 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35647686 | AAAAGGAGTCATACT[C/T]TAGGATGCTTTTGAG | 8904 |
rs6119636 | snp | C/G | 0.163564 | 0.234582 | upstream-variant-2KB | RBM12, CPNE1 | GRCh38.p7 | 20:35665096 | GGGCTAGTGGCCCTG[C/G]CGGGTGGGCTGGGTA | 8904 |
rs6121007 | snp | A/G | 0 | 0 | synonymous-codon, nc-transcript-variant | CPNE1 | GRCh38.p7 | 20:35631718 | GGGGTTCCCACCACA[A/G]AAATGCTGAACGGGG | 8904 |
rs6121008 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35634954 | tcactatgttgccca[A/G]gctgctgggcaactc | 8904 |
rs6121009 | snp | C/T | 0.02016 | 0.0983543 | intron-variant | CPNE1 | GRCh38.p7 | 20:35643124 | CAAACTGAGGAGGAC[C/T]ACATGGTCTTCAAAA | 8904 |
rs6121010 | snp | C/T | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35647705 | GATGCTTTTGAGACT[C/T]TAACACAAAGCAGCC | 8904 |
rs6121011 | snp | A/C/G | 0 | 0 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35652456 | AACCTGGAAATACTA[A/C/G]GAAAACAATCTGGAT | 8904 |
rs6121012 | snp | A/G | 0.0123452 | 0.0775899 | missense, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35652561 | TTTCTTGAACCTATA[A/G]GCCTGTCATTTAAGT | 8904 |
rs6121013 | snp | A/G | 1.64746e-05 | 0.00287002 | synonymous-codon, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35652614 | ATCCCGAGACTCAAA[A/G]GCCACCATGGCTTCA | 8904 |
rs6121014 | snp | A/G | 0 | 0 | synonymous-codon, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35652731 | AATAGACACAGTAAA[A/G]GGCATGTTTTGCACT | 8904 |
rs6121015 | snp | C/T | 0.346402 | 0.230666 | synonymous-codon, intron-variant, upstream-variant-2KB | RBM12, CPNE1 | GRCh38.p7 | 20:35655095 | ATTCTGCATTTCCGT[C/T]TTACTACTCAACAAT | 8904 |
rs6121017 | snp | A/T | 0.163564 | 0.234582 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35659229 | GAGTATCTCAAAATA[A/T]TTATATATTTACAAG | 8904 |
rs6121018 | snp | A/C | 0.409552 | 0.192466 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35661138 | CCATACCAAGGAAAA[A/C]CATGCAGAAAGTTGA | 8904 |
rs6121019 | snp | G/T | 0.162909 | 0.23434 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35662726 | ACCTGGAACACACTG[G/T]CCCACAACATCAAGT | 8904 |
rs6121020 | snp | C/T | 0.409212 | 0.192748 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35664084 | ACCCCACCCCCTCAC[C/T]TCCTAGCTTCAGACG | 8904 |
rs6121021 | snp | A/C | 0.162909 | 0.23434 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35664516 | CTCAGACCACGGGGG[A/C]GTCCTCGCTATGGCC | 8904 |
rs6142422 | snp | C/T | 0.0221141 | 0.102801 | intron-variant | CPNE1 | GRCh38.p7 | 20:35628136 | aatacaaaaaaaaaa[C/T]tagccgggcgtggtg | 8904 |
rs6142423 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35644269 | GGAGGAGTGGATCCA[A/G]GAGGAATGCCTCTGG | 8904 |
rs6579255 | snp | C/T | 0.346453 | 0.230644 | missense, nc-transcript-variant | CPNE1 | GRCh38.p7 | 20:35631574 | TCATAATCGGAGCAT[C/T]GCACCTGAGGGAAAG | 8904 |
rs7261284 | snp | A/T | 0.186421 | 0.24178 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35656182 | CTCTATTTAATAAAA[A/T]TTTTTAAAGTATTAT | 8904 |
rs7262170 | snp | A/G | 0.0150606 | 0.0854603 | utr-variant-3-prime, intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35651847 | GACATTAGAAATCAA[A/G]GTTTGAGGTTATAGC | 8904 |
rs7263858 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | CPNE1 | GRCh38.p7 | 20:35639304 | TTTTCAACTTTGCTA[C/T]ATGTTGAAAATTTTC | 8904 |
rs7266438 | snp | C/T | 0.396546 | 0.202545 | intron-variant | CPNE1 | GRCh38.p7 | 20:35628088 | agattgagaccatcc[C/T]agctaacacagtgaa | 8904 |
rs7272885 | snp | G/T | 0.0626037 | 0.165477 | intron-variant | CPNE1 | GRCh38.p7 | 20:35639231 | GTTGTTGAAGAAATG[G/T]GATAAAACAAGATTT | 8904 |
rs7273815 | snp | G/T | 0.188946 | 0.24243 | intron-variant | CPNE1 | GRCh38.p7 | 20:35644493 | AGATTTCCAGAAACC[G/T]AATGGCTAGGTTCAT | 8904 |
rs7353236 | snp | A/G | 0 | 0 | intron-variant | CPNE1 | GRCh38.p7 | 20:35638114 | TGGGGTCCTTGAACT[A/G]GGGCTGGATATTATC | 8904 |
rs7353937 | snp | A/G | | | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35661941 | AGAGATTAGCAACAG[A/G]GAACCAATCACAACG | 8904 |
rs7361065 | snp | C/T | 0 | 0 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35661923 | CTCTCAAATGTTCAC[C/T]TCAGAGATTAGCAAC | 8904 |
rs7361110 | snp | C/T | 0 | 0 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35662153 | AATTTTTCCATTAAC[C/T]TCCATTCCGTACTCA | 8904 |
rs7361123 | snp | C/T | 0 | 0 | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35662211 | AATAAGATATTCCTC[C/T]TGTCAAAAATATTAA | 8904 |
rs10211771 | snp | C/T | 0.351128 | 0.228633 | intron-variant | CPNE1 | GRCh38.p7 | 20:35632072 | AGGAACAAACAACCA[C/T]TATGCCATCCCTCTG | 8904 |
rs10211833 | snp | A/G/T | 0.00365373 | 0.042589 | intron-variant | CPNE1 | GRCh38.p7 | 20:35631659 | GTTCTCTTCTCCAGC[A/G/T]CAGTCCACTTAGGGG | 8904 |
rs10542710 | in-del | -/AC | | | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35658803 | AACAAGCAAACAAAA[-/AC]ACACACACACACACA | 8904 |
rs10635666 | snp | A/T | | | intron-variant | RBM12, CPNE1 | GRCh38.p7 | 20:35658803 | aacaagcaaacaaaa[A/T]cacacacacacacac | 8904 |