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rs80357427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357427(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094002
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357427
ebirs80357427
HLIrs80357427
Exacrs80357427
Varsomers80357427
Maprs80357427
PheGenIrs80357427
hapmaprs80357427
1000 genomesrs80357427
hgdprs80357427
ensemblrs80357427
gopubmedrs80357427
geneviewrs80357427
scholarrs80357427
googlers80357427
pharmgkbrs80357427
gwascentralrs80357427
openSNPrs80357427
23andMers80357427
23andMe allrs80357427
SNP Nexus

SNPshotrs80357427
SNPdbers80357427
MSV3drs80357427
GWAS Ctlgrs80357427
Max Magnitude6
rs80357427, also known as S510X, c.1529C>G and p.Ser510Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357427(G;G)
Alt rs80357427(G;G)
Reference rs80357427(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246019G>C
CLNSRC ClinVar
CLNACC RCV000047515.2, RCV000111643.1,