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rs80359016

From SNPedia

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


Make rs80359016(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362625
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359016
ebirs80359016
HLIrs80359016
Exacrs80359016
Varsomers80359016
Maprs80359016
PheGenIrs80359016
hapmaprs80359016
1000 genomesrs80359016
hgdprs80359016
ensemblrs80359016
gopubmedrs80359016
geneviewrs80359016
scholarrs80359016
googlers80359016
pharmgkbrs80359016
gwascentralrs80359016
openSNPrs80359016
23andMers80359016
23andMe allrs80359016
SNP Nexus

SNPshotrs80359016
SNPdbers80359016
MSV3drs80359016
GWAS Ctlgrs80359016
Max Magnitude6
rs80359016, also known as C2636X, c.7908T>A and p.Cys2636Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359016(A;A)
Alt rs80359016(A;A)
Reference rs80359016(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.32936762T>A
CLNSRC ClinVar
CLNACC RCV000045340.2, RCV000113836.1,