BRCA1
SNP - dbSNP
dbSNPTypeAllelesHetSe(het)Fxn-classGene NameAssemblyChr-posSequenceEntrez Gene
rs12516snpC/T0.4939180.0548094 BRCA117 allele_origin=T(unknown)/C(germline)17:43044391CTTCCCTAGCCCCCC[C/T]AGTGTGCAAGGGCAG672
rs16940snpC/T0.4500490.149935 BRCA117 allele_origin=T(germline)/C(germline,somatic)17:43093220AGTAGCAGTATTTCA[C/T]TGGTACCTGGTACTG672
rs16941snpA/G0.4506180.149173 BRCA117 allele_origin=G(inherited)/A(germline)/C(inherited)17:43092418AAAATGTTTTTAAAG[A/G]AGCCAGCTCAAGCAA672
rs16942snpA/G0.4544010.143945 BRCA117 allele_origin=G(germline)/A(germline)17:43091983GCAAAAGCGTCCAGA[A/G]AGGAGAGCTTAGCAG672
rs709630snpA/Tintron-variantBRCA1GRCh38.p717:43100655atataacatatatat[A/T]acatatatatatata672
rs799901snpG/Tintron-variantBRCA1GRCh38.p717:43121305gcctgaacccgggag[G/T]cggagctggcagtga672
rs799902snpC/T0.4960340.0443518intron-variantBRCA1GRCh38.p717:43121331agtgagccaagatcg[C/T]gccactgcactccag672
rs799903snpA/G0.4963480.0425753intron-variantBRCA1GRCh38.p717:43122889gcctctactaaaaaa[A/G]aaaaaaaaatacaaa672
rs799905snpC/G0.4992420.0194585 BRCA1, NBR217 allele_origin=G(germline)/C(unknown)17:43125170CCGCCCCTACCCCCC[C/G]TCAAAGAATACCCAT672
rs799906snpC/T0.499980.00319482upstream-variant-2KB, intron-variantBRCA1, NBR2GRCh38.p717:43126099CTGGGGCAAGTAGTC[C/T]TGTAAGGTCAGTGGC672
rs799907snpC/G0.2538240.249971upstream-variant-2KB, intron-variantBRCA1, NBR2GRCh38.p717:43126708ctcgctcgctctcgg[C/G]gcctcctcggccttg672
rs799908snpA/G0.499980.00319482upstream-variant-2KB, intron-variantBRCA1, NBR2GRCh38.p717:43126899gccagcgcgagttcc[A/G]ggtgggcgcgggctc672
rs799909snpA/G0.01545380.0865337upstream-variant-2KB, intron-variantBRCA1, NBR2GRCh38.p717:43127210gagaggagtgcaggc[A/G]cccggcacagccctg672
rs799911snpG/Tintron-variantBRCA1GRCh38.p717:43104565accaacaatgtaagt[G/T]gcactattatttcgt672
rs799912snpC/T0.4952910.0482933 BRCA117 allele_origin=T(germline)/C(unknown)17:43105117GTATAAACCGTGTGA[C/T]GGCAGTGATTTAGTA672
rs799913snpC/T0.2214390.248363intron-variantBRCA1GRCh38.p717:43106929ctcaccacaaagcta[C/T]agtaatcaagaaagt672
rs799914snpC/T0.07189190.175435intron-variantBRCA1GRCh38.p717:43107764aatgaaattatactc[C/T]tatctcacaccaaat672
rs799916snpA/C0.4999890.00239614 BRCA117 allele_origin=A(germline)/C(somatic)17:43091173TATAAAAGCAAATCC[A/C]GGTGTCCCAAAGCAA672
rs799917snpC/T0.4838180.0884827 BRCA117 allele_origin=G(inherited)/T(inherited)/A(inherited)/C(germline)17:43092919GCCAGTCATTTGCTC[C/T]GTTTTCAAATCCAGG672
rs799918snpC/G0.1543290.23097intron-variantBRCA1GRCh38.p717:43098010TTGAGAGCCCAGTTT[C/G]AATTCTGAGCTCAGC672
rs799919snpC/T0.4953680.0478996intron-variantBRCA1GRCh38.p717:43098906cactgcaacctctgc[C/T]tcctgggttcaagcg672
rs799921snpC/T00intron-variantBRCA1GRCh38.p717:43099080cgcccacctcggcct[C/T]ccaaagtgctgggat672
rs799922snpC/T00intron-variantBRCA1GRCh38.p717:43099203ATCCATCATGTTTTT[C/T]CTTATTGCTACTCTC672
rs799923snpA/G0.2871740.247221 BRCA117 allele_origin=G(germline)/A(germline)17:43099914AACAGTCAAGCAATT[A/G]TTGGCCAGTTCTGTG672
rs799924snpA/G0.102370.201756intron-variantBRCA1GRCh38.p717:43100560tgtgtgtgtgtgtgt[A/G]tatatatatataaca672
rs799925snpA/G0.2044960.245824intron-variantBRCA1GRCh38.p717:43100594atataacatatatat[A/G]ttatatatatataac672
rs799926snpA/Tintron-variantBRCA1GRCh38.p717:43100633aacatatatatatgt[A/T]atatatatataacat672
rs808955snpA/Tintron-variantBRCA1GRCh38.p717:43100510ctatgcctggctaat[A/T]tgtgtGTGTGTGTGt672
rs966018snpG/T00intron-variantBRCA1GRCh38.p717:43056633caggccagagtgcag[G/T]ggtgcgatctcagct672
rs1060915snpC/T0.4507660.148973 BRCA117 allele_origin=T(germline)/C(germline,somatic)17:43082453CATCATAAGTGACTC[C/T]TCTGCCCTTGAGGAC672
rs1060920snpA/Gutr-variant-3-prime, nc-transcript-variantBRCA1GRCh38.p717:43044784ATGAAACTAGAAGAG[A/G]TTTCTAAAAGTCTGA672
rs1060921snpA/Tutr-variant-3-prime, nc-transcript-variantBRCA1GRCh38.p717:43044778CTAGAAGAGATTTCT[A/T]AAAGTCTGAGATATA672
rs1709432snpC/Tintron-variantBRCA1GRCh38.p717:43112934tgcctgtaatcccag[C/T]tacttgggaggctga672
rs1709437snpG/Tintron-variantBRCA1GRCh38.p717:43114423agtctccctcttgtc[G/T]cccaggctggaatgc672
rs1709438snpA/G0.01980.0975087intron-variantBRCA1GRCh38.p717:43114435gtcgcccaggctgga[A/G]tgcagtggcatgatc672
rs1709440snpC/Gintron-variantBRCA1GRCh38.p717:43104579ttgcactattatttt[C/G]tgtatcactaagaaa672
rs1709441snpC/Gintron-variantBRCA1GRCh38.p717:43116661cgtggtggcgcacgc[C/G]tgtagttccaactac672
rs1793979snpA/T00intron-variantBRCA1GRCh38.p717:43116695ccaactctactaaaa[A/T]tacgaaaaatcagcc672
rs1793980snpC/Tintron-variantBRCA1GRCh38.p717:43114462TCCATAATTTTCATC[C/T]Gagtgagctaagatc672
rs1793981snpA/Cintron-variantBRCA1GRCh38.p717:43114290TGAACTGTATGTTTT[A/C]TGGTCAGCTTGAGTA672
rs1793982snpG/Tintron-variantBRCA1GRCh38.p717:43114288AACTGTATGTTTTAT[G/T]GTCAGCTTGAGTAAC672
rs1793984snpC/Gintron-variantBRCA1GRCh38.p717:43112844tgcactccagcctgg[C/G]cgacaagagtgaaaa672
rs1793986snpA/Cintron-variantBRCA1GRCh38.p717:43104841ATATCCCAAGAATGA[A/C]ACTCAAGTGCTGTCC672
rs1793989snpA/Cintron-variantBRCA1GRCh38.p717:43123452tgaggcaggagaatc[A/C]cttgaaccaggaggc672
rs1799736in-del-/Tintron-variantBRCA1GRCh38.p717:43097295TTTTGGGGGGAAATT[-/T]TTTAGGATCTGATTC672
rs1799949snpC/T0.4539530.144579 BRCA117 allele_origin=T(germline,somatic)/C(germline)17:43093449TAAAAGACATGACAG[C/T]GATACTTTCCCAGAG672
rs1799950snpA/G0.08425680.187161 BRCA117 allele_origin=G(germline)/A(germline)17:43094464AAGAATGGAATAAGC[A/G]GAAACTGCCATGCTC672
rs1799965snpC/T0.002933660.0381867 BRCA117 allele_origin=T(germline)/C(germline)17:43097246TAAGGCAACTTATTG[C/T]AGGTGAGTCAAAGAG672
rs1799966snpA/G0.4548280.143493 BRCA117 allele_origin=G(inherited)/T(inherited)/A(germline)17:43071077GCAGAATCTGCCCAG[A/G]GTCCAGCTGCTGCTC672
rs1799967snpA/G0.03461630.126925 BRCA117 allele_origin=G(germline)/A(germline)17:43070958CAAAAGAATGTCCAT[A/G]GTGGTGTCTGGCCTG672
rs1800062snpA/G/T0.008240270.0636571 BRCA117 allele_origin=G(germline)/T(germline)/A(germline)17:43115746ACCTGTCTCCACAAA[A/G/T]TGTGACCACATATTT672
rs1800063snpA/G0.00169540.0290659 BRCA117 allele_origin=G(germline)/A(germline)17:43094550TGGAAGTAAGGAAAC[A/G]TGTAATGATAGGCGG672
rs1800064snpA/G/T4.94907e-050.00497422 BRCA117 allele_origin=G(germline)/T(germline)/A(germline)17:43093665CAGGCATATTCATGC[A/G/T]CTTGAACTAGTAGTC672
rs1800704snpA/G0.001714780.029231 BRCA117 allele_origin=G(germline)/A(germline)17:43092507TGAGGAACATTCAAT[A/G]TCACCTGAAAGAGAA672
rs1800707snpG/T0.01220290.0771528missense, nc-transcript-variantBRCA1GRCh38.p717:43082543ACATAACCTGATAAA[G/T]CTCCAGCAGGAAATG672
rs1800709snpC/T0.003438820.0413229 BRCA117 allele_origin=T(germline)/C(germline)17:43093010GAAGTTAACCACAGT[C/T]GGGAAACAAGCATAG672
rs1800726snpA/C/G00 BRCA117 allele_origin=G(germline)/A(germline)17:43070993AAGCCAGAATTGACA[A/C/G]CTTCAACAGAAAGGG672
rs1800740snpA/G0.00169590.0290702 BRCA117 allele_origin=G(germline)/A(germline)17:43092798GGAAGAAAATCAAGG[A/G]AAGAATGAGTCTAAT672
rs1800744snpG/T0.004292570.0461287 BRCA117 allele_origin=G(germline)/T(germline)17:43074471GGTGGTACATGCACA[G/T]TTGCTCTGGGAGTCT672
rs1800747snpA/C/G/Tsplice-acceptor-variantBRCA1GRCh38.p717:43063952GTTTTTCATTCTGCA[A/C/G/T]ATGCTGAGTTTGTGT672
rs1800751snpC/G/T00 BRCA117 allele_origin=G(germline)/C(germline)17:43047676ATTGTGGTTGTGCAG[C/G/T]CAGATGCCTGGACAG672
rs1800757snpC/T0.0001539880.00877328missense, nc-transcript-variantBRCA1GRCh38.p717:43051069CCCTTCACCAACATG[C/T]CCACAGGTAAGAGCC672
rs2070833snpA/C0.1405810.224783intron-variantBRCA1GRCh38.p717:43090832TTTGAATTAATGGCA[A/C]AATTGTTTGTGGTTC672
rs2070834snpA/C0.4565680.140818intron-variantBRCA1GRCh38.p717:43090268ACTCTGCATAGCTCC[A/C]TTTTAAGAATATGCC672
rs2187603snpA/G0.4382460.16451intron-variantBRCA1GRCh38.p717:43061876TTTTATAGGCCAGGC[A/G]TGGTGGCTCATGCCT672
rs2227945snpA/G0.006200140.055332 BRCA117 allele_origin=G(germline)/A(germline)17:43092113CAGCCTATGGGAAGT[A/G]GTCATGCATCTCAGG672
rs2236762snpA/T0.4999890.00239614intron-variantBRCA1GRCh38.p717:43074658GACTTCTAGGCTGTC[A/T]TGCGGGCTCTTTTTT672
rs2236763snpA/C0.003189780.0398085intron-variantBRCA1GRCh38.p717:43074016TAATCCCAGTACTCC[A/C]GGAGGCCGAGGCAGG672
rs2355967snpC/Tintron-variantBRCA1GRCh38.p717:43072897CCCCACCCCCCtttt[C/T]atagagatcaggtct672
rs2671874snpA/G0.2510140.249998intron-variantBRCA1GRCh38.p717:43113938aaattagctgggtgt[A/G]gtggcagatgcctgt672
rs2854689snpA/G00intron-variantBRCA1GRCh38.p717:43114175gaggccaaggcagga[A/G]gatcacttaaggcca672
rs3092986snpA/G0.04258290.139564upstream-variant-2KB, intron-variantBRCA1, NBR2GRCh38.p717:43125979ACAACACTCCAGTCC[A/G]TAACTGTTGACAAGT672
rs3092987snpA/G0.4471620.153712intron-variantBRCA1GRCh38.p717:43070706GAGAAAATAATTATT[A/G]AATATTAGTGGAAAA672
rs3092988snpA/G0.4388060.163867intron-variantBRCA1GRCh38.p717:43049685CTGAGTCTCTAACCA[A/G]GATAACATGTATTTT672
rs3092994snpA/G0.4503570.149522 BRCA117 allele_origin=G(germline)/A(germline,somatic)17:43063808ATTTTTACACCTAAC[A/G]TTTAACACCTAAGGT672
rs3092995snpC/G/T0.009703590.0689765 BRCA117 allele_origin=G(germline)/C(germline)17:43045642AGAGCCACAGGACCC[C/G/T]AAGAATGAGCTTACA672
rs3220757microsatellite(CA)17/19/20/21/22/23/24/250.8260620.0733934intron-variantBRCA1GRCh38.p717:43052782ACAGACGGACAGAAA[(CA)17/19/20/21/22/23/24/25]TCTTACTTTACCACC672
rs3737559snpA/G0.1203260.21374 BRCA117 allele_origin=G(germline)/A(unknown)17:43082287CTTGCTCAGCACATG[A/G]GTAATTATGGAGCCT672
rs3765640snpC/T0.4571540.139954 BRCA1, NBR217 allele_origin=T(germline)/C(germline)17:43124230TTCTTTGGTTTGTAT[C/T]ATTCTAAAACCTTCC672
rs3785546snpC/T0.448580.151875intron-variantBRCA1GRCh38.p717:43064916GCTCACGGCAAGCTC[C/T]GCCTCCTGGGTTCAT672
rs3950989snpA/G0.4565680.140818intron-variantBRCA1GRCh38.p717:43085936AATAAGCCTAATCCA[A/G]ATACAAGCTGAAGTC672
rs4239147snpC/T0.4999870.00259581intron-variantBRCA1GRCh38.p717:43077795ggtgagccaagatca[C/T]gccattgcactgcag672
rs4239148snpC/T0.4952130.048687intron-variantBRCA1GRCh38.p717:43077840gctgaggcaggagaa[C/T]agcttgaacctggga672
rs4318274snpA/T0.4953680.0478996intron-variantBRCA1GRCh38.p717:43077891aaaattagttgggcg[A/T]ggtggtgcatacctg672
rs4438367snpA/Gsynonymous-codon, missense, nc-transcript-variantBRCA1GRCh38.p717:43047677AATTGTGGTTGTGCA[A/G]CCAGATGCCTGGACA672
rs4792972snpC/T0.3456790.230967intron-variantBRCA1GRCh38.p717:43048520tttctctctctctct[C/T]tttttttttttttag672
rs4792977snpA/G0.4568030.140473intron-variantBRCA1GRCh38.p717:43108791agaggtcaggagttc[A/G]agaccagcctgacca672
rs4793190snpC/T0.4504830.149354intron-variantBRCA1GRCh38.p717:43048092gtagacatgaggtcc[C/T]actgtattgcccagg672
rs4793191snpA/G0.4506090.149185intron-variantBRCA1GRCh38.p717:43052360ATCATAGCTTGCTGC[A/G]GTATTGAACTTCTGG672
rs4793192snpC/T0.4504830.149354intron-variantBRCA1GRCh38.p717:43052373GCAGTATTGAACTTC[C/T]GGGCTCAAGCAATCC672
rs4793193snpA/C0.4504830.149354intron-variantBRCA1GRCh38.p717:43060321TGCTGGGATTACAGG[A/C]ATGAGCCACCACACC672
rs4793194snpA/G0.4571540.139954intron-variantBRCA1GRCh38.p717:43066316TGTTAAGACTATCTC[A/G]GAGCTGTTATCAGAC672
rs4793195snpC/T0.4461180.155041intron-variantBRCA1GRCh38.p717:43066555agctgggattacagg[C/T]gcacaccaccacgcc672
rs4793197snpA/G0.445460.155869intron-variantBRCA1GRCh38.p717:43079885TCTTCTTACTACAAT[A/G]GGCCTCATGCAATGA672
rs4793203snpC/T0.001197370.0244387intron-variantBRCA1GRCh38.p717:43117310AGCCGGGCGTGGTGG[C/T]GCATGCCTGTGGTCT672
rs4793204snpA/G0.4575040.139435upstream-variant-2KB, intron-variantBRCA1, NBR2GRCh38.p717:43127281agatggggacttgga[A/G]aacttttatgtctag672
rs4986844snpA/G0.00103810.0227591 BRCA117 allele_origin=G(germline)/A(germline)17:43093422AGAGCTGAAGTTAAC[A/G]AATGCACCTGGTTCT672
rs4986845snpA/G0.001137530.0238217 BRCA117 allele_origin=G(germline)/A(germline)17:43093364CTTAAAGAATTTGTC[A/G]ATCCTAGCCTTCCAA672
rs4986846snpC/G/T0.0003130740.0125078 BRCA117 allele_origin=G(germline)/T(germline)/C(germline)17:43093299AGTGTCTAATAATGC[C/G/T]GAAGACCCCAAAGAT672
rs4986847snpA/C/G0.0002141840.0103463 BRCA117 allele_origin=G(germline)/A(germline)/C(germline)17:43092758GTACAGACAGTTAAT[A/C/G]TCACTGCAGGCTTTC672
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