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rs80357471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357471(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106490
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357471
ebirs80357471
HLIrs80357471
Exacrs80357471
Varsomers80357471
Maprs80357471
PheGenIrs80357471
hapmaprs80357471
1000 genomesrs80357471
hgdprs80357471
ensemblrs80357471
gopubmedrs80357471
geneviewrs80357471
scholarrs80357471
googlers80357471
pharmgkbrs80357471
gwascentralrs80357471
openSNPrs80357471
23andMers80357471
23andMe allrs80357471
SNP Nexus

SNPshotrs80357471
SNPdbers80357471
MSV3drs80357471
GWAS Ctlgrs80357471
Max Magnitude6
rs80357471, also known as Q60X, c.178C>T and p.Gln60Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357471(T;T)
Alt rs80357471(T;T)
Reference rs80357471(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.41258507G>A
CLNSRC ClinVar
CLNACC RCV000047585.2, RCV000077496.4,