SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs12516 | snp | C/T | 0.493918 | 0.0548094 | BRCA1 | 17 | allele_origin=T(unknown)/C(germline) | 17:43044391 | CTTCCCTAGCCCCCC[C/T]AGTGTGCAAGGGCAG | 672 |
rs16940 | snp | C/T | 0.450049 | 0.149935 | BRCA1 | 17 | allele_origin=T(germline)/C(germline,somatic) | 17:43093220 | AGTAGCAGTATTTCA[C/T]TGGTACCTGGTACTG | 672 |
rs16941 | snp | A/G | 0.450618 | 0.149173 | BRCA1 | 17 | allele_origin=G(inherited)/A(germline)/C(inherited) | 17:43092418 | AAAATGTTTTTAAAG[A/G]AGCCAGCTCAAGCAA | 672 |
rs16942 | snp | A/G | 0.454401 | 0.143945 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43091983 | GCAAAAGCGTCCAGA[A/G]AGGAGAGCTTAGCAG | 672 |
rs709630 | snp | A/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43100655 | atataacatatatat[A/T]acatatatatatata | 672 |
rs799901 | snp | G/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43121305 | gcctgaacccgggag[G/T]cggagctggcagtga | 672 |
rs799902 | snp | C/T | 0.496034 | 0.0443518 | intron-variant | BRCA1 | GRCh38.p7 | 17:43121331 | agtgagccaagatcg[C/T]gccactgcactccag | 672 |
rs799903 | snp | A/G | 0.496348 | 0.0425753 | intron-variant | BRCA1 | GRCh38.p7 | 17:43122889 | gcctctactaaaaaa[A/G]aaaaaaaaatacaaa | 672 |
rs799905 | snp | C/G | 0.499242 | 0.0194585 | BRCA1, NBR2 | 17 | allele_origin=G(germline)/C(unknown) | 17:43125170 | CCGCCCCTACCCCCC[C/G]TCAAAGAATACCCAT | 672 |
rs799906 | snp | C/T | 0.49998 | 0.00319482 | upstream-variant-2KB, intron-variant | BRCA1, NBR2 | GRCh38.p7 | 17:43126099 | CTGGGGCAAGTAGTC[C/T]TGTAAGGTCAGTGGC | 672 |
rs799907 | snp | C/G | 0.253824 | 0.249971 | upstream-variant-2KB, intron-variant | BRCA1, NBR2 | GRCh38.p7 | 17:43126708 | ctcgctcgctctcgg[C/G]gcctcctcggccttg | 672 |
rs799908 | snp | A/G | 0.49998 | 0.00319482 | upstream-variant-2KB, intron-variant | BRCA1, NBR2 | GRCh38.p7 | 17:43126899 | gccagcgcgagttcc[A/G]ggtgggcgcgggctc | 672 |
rs799909 | snp | A/G | 0.0154538 | 0.0865337 | upstream-variant-2KB, intron-variant | BRCA1, NBR2 | GRCh38.p7 | 17:43127210 | gagaggagtgcaggc[A/G]cccggcacagccctg | 672 |
rs799911 | snp | G/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43104565 | accaacaatgtaagt[G/T]gcactattatttcgt | 672 |
rs799912 | snp | C/T | 0.495291 | 0.0482933 | BRCA1 | 17 | allele_origin=T(germline)/C(unknown) | 17:43105117 | GTATAAACCGTGTGA[C/T]GGCAGTGATTTAGTA | 672 |
rs799913 | snp | C/T | 0.221439 | 0.248363 | intron-variant | BRCA1 | GRCh38.p7 | 17:43106929 | ctcaccacaaagcta[C/T]agtaatcaagaaagt | 672 |
rs799914 | snp | C/T | 0.0718919 | 0.175435 | intron-variant | BRCA1 | GRCh38.p7 | 17:43107764 | aatgaaattatactc[C/T]tatctcacaccaaat | 672 |
rs799916 | snp | A/C | 0.499989 | 0.00239614 | BRCA1 | 17 | allele_origin=A(germline)/C(somatic) | 17:43091173 | TATAAAAGCAAATCC[A/C]GGTGTCCCAAAGCAA | 672 |
rs799917 | snp | C/T | 0.483818 | 0.0884827 | BRCA1 | 17 | allele_origin=G(inherited)/T(inherited)/A(inherited)/C(germline) | 17:43092919 | GCCAGTCATTTGCTC[C/T]GTTTTCAAATCCAGG | 672 |
rs799918 | snp | C/G | 0.154329 | 0.23097 | intron-variant | BRCA1 | GRCh38.p7 | 17:43098010 | TTGAGAGCCCAGTTT[C/G]AATTCTGAGCTCAGC | 672 |
rs799919 | snp | C/T | 0.495368 | 0.0478996 | intron-variant | BRCA1 | GRCh38.p7 | 17:43098906 | cactgcaacctctgc[C/T]tcctgggttcaagcg | 672 |
rs799921 | snp | C/T | 0 | 0 | intron-variant | BRCA1 | GRCh38.p7 | 17:43099080 | cgcccacctcggcct[C/T]ccaaagtgctgggat | 672 |
rs799922 | snp | C/T | 0 | 0 | intron-variant | BRCA1 | GRCh38.p7 | 17:43099203 | ATCCATCATGTTTTT[C/T]CTTATTGCTACTCTC | 672 |
rs799923 | snp | A/G | 0.287174 | 0.247221 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43099914 | AACAGTCAAGCAATT[A/G]TTGGCCAGTTCTGTG | 672 |
rs799924 | snp | A/G | 0.10237 | 0.201756 | intron-variant | BRCA1 | GRCh38.p7 | 17:43100560 | tgtgtgtgtgtgtgt[A/G]tatatatatataaca | 672 |
rs799925 | snp | A/G | 0.204496 | 0.245824 | intron-variant | BRCA1 | GRCh38.p7 | 17:43100594 | atataacatatatat[A/G]ttatatatatataac | 672 |
rs799926 | snp | A/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43100633 | aacatatatatatgt[A/T]atatatatataacat | 672 |
rs808955 | snp | A/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43100510 | ctatgcctggctaat[A/T]tgtgtGTGTGTGTGt | 672 |
rs966018 | snp | G/T | 0 | 0 | intron-variant | BRCA1 | GRCh38.p7 | 17:43056633 | caggccagagtgcag[G/T]ggtgcgatctcagct | 672 |
rs1060915 | snp | C/T | 0.450766 | 0.148973 | BRCA1 | 17 | allele_origin=T(germline)/C(germline,somatic) | 17:43082453 | CATCATAAGTGACTC[C/T]TCTGCCCTTGAGGAC | 672 |
rs1060920 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | BRCA1 | GRCh38.p7 | 17:43044784 | ATGAAACTAGAAGAG[A/G]TTTCTAAAAGTCTGA | 672 |
rs1060921 | snp | A/T | | | utr-variant-3-prime, nc-transcript-variant | BRCA1 | GRCh38.p7 | 17:43044778 | CTAGAAGAGATTTCT[A/T]AAAGTCTGAGATATA | 672 |
rs1709432 | snp | C/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43112934 | tgcctgtaatcccag[C/T]tacttgggaggctga | 672 |
rs1709437 | snp | G/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43114423 | agtctccctcttgtc[G/T]cccaggctggaatgc | 672 |
rs1709438 | snp | A/G | 0.0198 | 0.0975087 | intron-variant | BRCA1 | GRCh38.p7 | 17:43114435 | gtcgcccaggctgga[A/G]tgcagtggcatgatc | 672 |
rs1709440 | snp | C/G | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43104579 | ttgcactattatttt[C/G]tgtatcactaagaaa | 672 |
rs1709441 | snp | C/G | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43116661 | cgtggtggcgcacgc[C/G]tgtagttccaactac | 672 |
rs1793979 | snp | A/T | 0 | 0 | intron-variant | BRCA1 | GRCh38.p7 | 17:43116695 | ccaactctactaaaa[A/T]tacgaaaaatcagcc | 672 |
rs1793980 | snp | C/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43114462 | TCCATAATTTTCATC[C/T]Gagtgagctaagatc | 672 |
rs1793981 | snp | A/C | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43114290 | TGAACTGTATGTTTT[A/C]TGGTCAGCTTGAGTA | 672 |
rs1793982 | snp | G/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43114288 | AACTGTATGTTTTAT[G/T]GTCAGCTTGAGTAAC | 672 |
rs1793984 | snp | C/G | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43112844 | tgcactccagcctgg[C/G]cgacaagagtgaaaa | 672 |
rs1793986 | snp | A/C | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43104841 | ATATCCCAAGAATGA[A/C]ACTCAAGTGCTGTCC | 672 |
rs1793989 | snp | A/C | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43123452 | tgaggcaggagaatc[A/C]cttgaaccaggaggc | 672 |
rs1799736 | in-del | -/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43097295 | TTTTGGGGGGAAATT[-/T]TTTAGGATCTGATTC | 672 |
rs1799949 | snp | C/T | 0.453953 | 0.144579 | BRCA1 | 17 | allele_origin=T(germline,somatic)/C(germline) | 17:43093449 | TAAAAGACATGACAG[C/T]GATACTTTCCCAGAG | 672 |
rs1799950 | snp | A/G | 0.0842568 | 0.187161 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43094464 | AAGAATGGAATAAGC[A/G]GAAACTGCCATGCTC | 672 |
rs1799965 | snp | C/T | 0.00293366 | 0.0381867 | BRCA1 | 17 | allele_origin=T(germline)/C(germline) | 17:43097246 | TAAGGCAACTTATTG[C/T]AGGTGAGTCAAAGAG | 672 |
rs1799966 | snp | A/G | 0.454828 | 0.143493 | BRCA1 | 17 | allele_origin=G(inherited)/T(inherited)/A(germline) | 17:43071077 | GCAGAATCTGCCCAG[A/G]GTCCAGCTGCTGCTC | 672 |
rs1799967 | snp | A/G | 0.0346163 | 0.126925 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43070958 | CAAAAGAATGTCCAT[A/G]GTGGTGTCTGGCCTG | 672 |
rs1800062 | snp | A/G/T | 0.00824027 | 0.0636571 | BRCA1 | 17 | allele_origin=G(germline)/T(germline)/A(germline) | 17:43115746 | ACCTGTCTCCACAAA[A/G/T]TGTGACCACATATTT | 672 |
rs1800063 | snp | A/G | 0.0016954 | 0.0290659 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43094550 | TGGAAGTAAGGAAAC[A/G]TGTAATGATAGGCGG | 672 |
rs1800064 | snp | A/G/T | 4.94907e-05 | 0.00497422 | BRCA1 | 17 | allele_origin=G(germline)/T(germline)/A(germline) | 17:43093665 | CAGGCATATTCATGC[A/G/T]CTTGAACTAGTAGTC | 672 |
rs1800704 | snp | A/G | 0.00171478 | 0.029231 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43092507 | TGAGGAACATTCAAT[A/G]TCACCTGAAAGAGAA | 672 |
rs1800707 | snp | G/T | 0.0122029 | 0.0771528 | missense, nc-transcript-variant | BRCA1 | GRCh38.p7 | 17:43082543 | ACATAACCTGATAAA[G/T]CTCCAGCAGGAAATG | 672 |
rs1800709 | snp | C/T | 0.00343882 | 0.0413229 | BRCA1 | 17 | allele_origin=T(germline)/C(germline) | 17:43093010 | GAAGTTAACCACAGT[C/T]GGGAAACAAGCATAG | 672 |
rs1800726 | snp | A/C/G | 0 | 0 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43070993 | AAGCCAGAATTGACA[A/C/G]CTTCAACAGAAAGGG | 672 |
rs1800740 | snp | A/G | 0.0016959 | 0.0290702 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43092798 | GGAAGAAAATCAAGG[A/G]AAGAATGAGTCTAAT | 672 |
rs1800744 | snp | G/T | 0.00429257 | 0.0461287 | BRCA1 | 17 | allele_origin=G(germline)/T(germline) | 17:43074471 | GGTGGTACATGCACA[G/T]TTGCTCTGGGAGTCT | 672 |
rs1800747 | snp | A/C/G/T | | | splice-acceptor-variant | BRCA1 | GRCh38.p7 | 17:43063952 | GTTTTTCATTCTGCA[A/C/G/T]ATGCTGAGTTTGTGT | 672 |
rs1800751 | snp | C/G/T | 0 | 0 | BRCA1 | 17 | allele_origin=G(germline)/C(germline) | 17:43047676 | ATTGTGGTTGTGCAG[C/G/T]CAGATGCCTGGACAG | 672 |
rs1800757 | snp | C/T | 0.000153988 | 0.00877328 | missense, nc-transcript-variant | BRCA1 | GRCh38.p7 | 17:43051069 | CCCTTCACCAACATG[C/T]CCACAGGTAAGAGCC | 672 |
rs2070833 | snp | A/C | 0.140581 | 0.224783 | intron-variant | BRCA1 | GRCh38.p7 | 17:43090832 | TTTGAATTAATGGCA[A/C]AATTGTTTGTGGTTC | 672 |
rs2070834 | snp | A/C | 0.456568 | 0.140818 | intron-variant | BRCA1 | GRCh38.p7 | 17:43090268 | ACTCTGCATAGCTCC[A/C]TTTTAAGAATATGCC | 672 |
rs2187603 | snp | A/G | 0.438246 | 0.16451 | intron-variant | BRCA1 | GRCh38.p7 | 17:43061876 | TTTTATAGGCCAGGC[A/G]TGGTGGCTCATGCCT | 672 |
rs2227945 | snp | A/G | 0.00620014 | 0.055332 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43092113 | CAGCCTATGGGAAGT[A/G]GTCATGCATCTCAGG | 672 |
rs2236762 | snp | A/T | 0.499989 | 0.00239614 | intron-variant | BRCA1 | GRCh38.p7 | 17:43074658 | GACTTCTAGGCTGTC[A/T]TGCGGGCTCTTTTTT | 672 |
rs2236763 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | BRCA1 | GRCh38.p7 | 17:43074016 | TAATCCCAGTACTCC[A/C]GGAGGCCGAGGCAGG | 672 |
rs2355967 | snp | C/T | | | intron-variant | BRCA1 | GRCh38.p7 | 17:43072897 | CCCCACCCCCCtttt[C/T]atagagatcaggtct | 672 |
rs2671874 | snp | A/G | 0.251014 | 0.249998 | intron-variant | BRCA1 | GRCh38.p7 | 17:43113938 | aaattagctgggtgt[A/G]gtggcagatgcctgt | 672 |
rs2854689 | snp | A/G | 0 | 0 | intron-variant | BRCA1 | GRCh38.p7 | 17:43114175 | gaggccaaggcagga[A/G]gatcacttaaggcca | 672 |
rs3092986 | snp | A/G | 0.0425829 | 0.139564 | upstream-variant-2KB, intron-variant | BRCA1, NBR2 | GRCh38.p7 | 17:43125979 | ACAACACTCCAGTCC[A/G]TAACTGTTGACAAGT | 672 |
rs3092987 | snp | A/G | 0.447162 | 0.153712 | intron-variant | BRCA1 | GRCh38.p7 | 17:43070706 | GAGAAAATAATTATT[A/G]AATATTAGTGGAAAA | 672 |
rs3092988 | snp | A/G | 0.438806 | 0.163867 | intron-variant | BRCA1 | GRCh38.p7 | 17:43049685 | CTGAGTCTCTAACCA[A/G]GATAACATGTATTTT | 672 |
rs3092994 | snp | A/G | 0.450357 | 0.149522 | BRCA1 | 17 | allele_origin=G(germline)/A(germline,somatic) | 17:43063808 | ATTTTTACACCTAAC[A/G]TTTAACACCTAAGGT | 672 |
rs3092995 | snp | C/G/T | 0.00970359 | 0.0689765 | BRCA1 | 17 | allele_origin=G(germline)/C(germline) | 17:43045642 | AGAGCCACAGGACCC[C/G/T]AAGAATGAGCTTACA | 672 |
rs3220757 | microsatellite | (CA)17/19/20/21/22/23/24/25 | 0.826062 | 0.0733934 | intron-variant | BRCA1 | GRCh38.p7 | 17:43052782 | ACAGACGGACAGAAA[(CA)17/19/20/21/22/23/24/25]TCTTACTTTACCACC | 672 |
rs3737559 | snp | A/G | 0.120326 | 0.21374 | BRCA1 | 17 | allele_origin=G(germline)/A(unknown) | 17:43082287 | CTTGCTCAGCACATG[A/G]GTAATTATGGAGCCT | 672 |
rs3765640 | snp | C/T | 0.457154 | 0.139954 | BRCA1, NBR2 | 17 | allele_origin=T(germline)/C(germline) | 17:43124230 | TTCTTTGGTTTGTAT[C/T]ATTCTAAAACCTTCC | 672 |
rs3785546 | snp | C/T | 0.44858 | 0.151875 | intron-variant | BRCA1 | GRCh38.p7 | 17:43064916 | GCTCACGGCAAGCTC[C/T]GCCTCCTGGGTTCAT | 672 |
rs3950989 | snp | A/G | 0.456568 | 0.140818 | intron-variant | BRCA1 | GRCh38.p7 | 17:43085936 | AATAAGCCTAATCCA[A/G]ATACAAGCTGAAGTC | 672 |
rs4239147 | snp | C/T | 0.499987 | 0.00259581 | intron-variant | BRCA1 | GRCh38.p7 | 17:43077795 | ggtgagccaagatca[C/T]gccattgcactgcag | 672 |
rs4239148 | snp | C/T | 0.495213 | 0.048687 | intron-variant | BRCA1 | GRCh38.p7 | 17:43077840 | gctgaggcaggagaa[C/T]agcttgaacctggga | 672 |
rs4318274 | snp | A/T | 0.495368 | 0.0478996 | intron-variant | BRCA1 | GRCh38.p7 | 17:43077891 | aaaattagttgggcg[A/T]ggtggtgcatacctg | 672 |
rs4438367 | snp | A/G | | | synonymous-codon, missense, nc-transcript-variant | BRCA1 | GRCh38.p7 | 17:43047677 | AATTGTGGTTGTGCA[A/G]CCAGATGCCTGGACA | 672 |
rs4792972 | snp | C/T | 0.345679 | 0.230967 | intron-variant | BRCA1 | GRCh38.p7 | 17:43048520 | tttctctctctctct[C/T]tttttttttttttag | 672 |
rs4792977 | snp | A/G | 0.456803 | 0.140473 | intron-variant | BRCA1 | GRCh38.p7 | 17:43108791 | agaggtcaggagttc[A/G]agaccagcctgacca | 672 |
rs4793190 | snp | C/T | 0.450483 | 0.149354 | intron-variant | BRCA1 | GRCh38.p7 | 17:43048092 | gtagacatgaggtcc[C/T]actgtattgcccagg | 672 |
rs4793191 | snp | A/G | 0.450609 | 0.149185 | intron-variant | BRCA1 | GRCh38.p7 | 17:43052360 | ATCATAGCTTGCTGC[A/G]GTATTGAACTTCTGG | 672 |
rs4793192 | snp | C/T | 0.450483 | 0.149354 | intron-variant | BRCA1 | GRCh38.p7 | 17:43052373 | GCAGTATTGAACTTC[C/T]GGGCTCAAGCAATCC | 672 |
rs4793193 | snp | A/C | 0.450483 | 0.149354 | intron-variant | BRCA1 | GRCh38.p7 | 17:43060321 | TGCTGGGATTACAGG[A/C]ATGAGCCACCACACC | 672 |
rs4793194 | snp | A/G | 0.457154 | 0.139954 | intron-variant | BRCA1 | GRCh38.p7 | 17:43066316 | TGTTAAGACTATCTC[A/G]GAGCTGTTATCAGAC | 672 |
rs4793195 | snp | C/T | 0.446118 | 0.155041 | intron-variant | BRCA1 | GRCh38.p7 | 17:43066555 | agctgggattacagg[C/T]gcacaccaccacgcc | 672 |
rs4793197 | snp | A/G | 0.44546 | 0.155869 | intron-variant | BRCA1 | GRCh38.p7 | 17:43079885 | TCTTCTTACTACAAT[A/G]GGCCTCATGCAATGA | 672 |
rs4793203 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | BRCA1 | GRCh38.p7 | 17:43117310 | AGCCGGGCGTGGTGG[C/T]GCATGCCTGTGGTCT | 672 |
rs4793204 | snp | A/G | 0.457504 | 0.139435 | upstream-variant-2KB, intron-variant | BRCA1, NBR2 | GRCh38.p7 | 17:43127281 | agatggggacttgga[A/G]aacttttatgtctag | 672 |
rs4986844 | snp | A/G | 0.0010381 | 0.0227591 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43093422 | AGAGCTGAAGTTAAC[A/G]AATGCACCTGGTTCT | 672 |
rs4986845 | snp | A/G | 0.00113753 | 0.0238217 | BRCA1 | 17 | allele_origin=G(germline)/A(germline) | 17:43093364 | CTTAAAGAATTTGTC[A/G]ATCCTAGCCTTCCAA | 672 |
rs4986846 | snp | C/G/T | 0.000313074 | 0.0125078 | BRCA1 | 17 | allele_origin=G(germline)/T(germline)/C(germline) | 17:43093299 | AGTGTCTAATAATGC[C/G/T]GAAGACCCCAAAGAT | 672 |
rs4986847 | snp | A/C/G | 0.000214184 | 0.0103463 | BRCA1 | 17 | allele_origin=G(germline)/A(germline)/C(germline) | 17:43092758 | GTACAGACAGTTAAT[A/C/G]TCACTGCAGGCTTTC | 672 |