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rs80357392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357392(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094731
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357392
ebirs80357392
HLIrs80357392
Exacrs80357392
Varsomers80357392
Maprs80357392
PheGenIrs80357392
hapmaprs80357392
1000 genomesrs80357392
hgdprs80357392
ensemblrs80357392
gopubmedrs80357392
geneviewrs80357392
scholarrs80357392
googlers80357392
pharmgkbrs80357392
gwascentralrs80357392
openSNPrs80357392
23andMers80357392
23andMe allrs80357392
SNP Nexus

SNPshotrs80357392
SNPdbers80357392
MSV3drs80357392
GWAS Ctlgrs80357392
Max Magnitude6
rs80357392, also known as S267X, c.800C>G and p.Ser267Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357392(G;G)
Alt rs80357392(G;G)
Reference rs80357392(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.41246748G>C
CLNSRC ClinVar
CLNACC RCV000049146.2, RCV000112791.1,