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rs80358413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358413(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332680
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358413
ebirs80358413
HLIrs80358413
Exacrs80358413
Varsomers80358413
Maprs80358413
PheGenIrs80358413
hapmaprs80358413
1000 genomesrs80358413
hgdprs80358413
ensemblrs80358413
gopubmedrs80358413
geneviewrs80358413
scholarrs80358413
googlers80358413
pharmgkbrs80358413
gwascentralrs80358413
openSNPrs80358413
23andMers80358413
23andMe allrs80358413
SNP Nexus

SNPshotrs80358413
SNPdbers80358413
MSV3drs80358413
GWAS Ctlgrs80358413
Max Magnitude6
rs80358413, also known as S401X, c.1202C>G and p.Ser401Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358413(G;G)
Alt rs80358413(G;G)
Reference rs80358413(C;C)
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.32906817C>G
CLNSRC ClinVar
CLNACC RCV000043756.2, RCV000112891.1,