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rs80359192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359192(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380145
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359192
ebirs80359192
HLIrs80359192
Exacrs80359192
Varsomers80359192
Maprs80359192
PheGenIrs80359192
hapmaprs80359192
1000 genomesrs80359192
hgdprs80359192
ensemblrs80359192
gopubmedrs80359192
geneviewrs80359192
scholarrs80359192
googlers80359192
pharmgkbrs80359192
gwascentralrs80359192
openSNPrs80359192
23andMers80359192
23andMe allrs80359192
SNP Nexus

SNPshotrs80359192
SNPdbers80359192
MSV3drs80359192
GWAS Ctlgrs80359192
Max Magnitude6
rs80359192, also known as G3086X, c.9256G>T and p.Gly3086Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359192(T;T)
Alt rs80359192(T;T)
Reference rs80359192(G;G)
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.32954282G>T
CLNSRC ClinVar
CLNACC RCV000045762.2, RCV000114076.1,