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rs80359197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80359197(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394708
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359197
ebirs80359197
HLIrs80359197
Exacrs80359197
Varsomers80359197
Maprs80359197
PheGenIrs80359197
hapmaprs80359197
1000 genomesrs80359197
hgdprs80359197
ensemblrs80359197
gopubmedrs80359197
geneviewrs80359197
scholarrs80359197
googlers80359197
pharmgkbrs80359197
gwascentralrs80359197
openSNPrs80359197
23andMers80359197
23andMe allrs80359197
SNP Nexus

SNPshotrs80359197
SNPdbers80359197
MSV3drs80359197
GWAS Ctlgrs80359197
Max Magnitude6
rs80359197, also known as Y3092X, c.9276T>G and p.Tyr3092Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359197(G;G)
Alt rs80359197(G;G)
Reference rs80359197(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968845T>G
CLNSRC ClinVar
CLNACC RCV000045777.2, RCV000114085.1,