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rs80359156

From SNPedia

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


Make rs80359156(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379837
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359156
ebirs80359156
HLIrs80359156
Exacrs80359156
Varsomers80359156
Maprs80359156
PheGenIrs80359156
hapmaprs80359156
1000 genomesrs80359156
hgdprs80359156
ensemblrs80359156
gopubmedrs80359156
geneviewrs80359156
scholarrs80359156
googlers80359156
pharmgkbrs80359156
gwascentralrs80359156
openSNPrs80359156
23andMers80359156
23andMe allrs80359156
SNP Nexus

SNPshotrs80359156
SNPdbers80359156
MSV3drs80359156
GWAS Ctlgrs80359156
Max Magnitude6
rs80359156, also known as S3014X, c.9041C>A and p.Ser3014Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359156(A,G;A,G)
Alt rs80359156(A,G;A,G)
Reference rs80359156(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32953974C>A; NC_000013.10:g.32953974C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000045696.2, RCV000114034.1, RCV000129551.2,