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rs80358595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358595(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337824
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358595
ebirs80358595
HLIrs80358595
Exacrs80358595
Varsomers80358595
Maprs80358595
PheGenIrs80358595
hapmaprs80358595
1000 genomesrs80358595
hgdprs80358595
ensemblrs80358595
gopubmedrs80358595
geneviewrs80358595
scholarrs80358595
googlers80358595
pharmgkbrs80358595
gwascentralrs80358595
openSNPrs80358595
23andMers80358595
23andMe allrs80358595
SNP Nexus

SNPshotrs80358595
SNPdbers80358595
MSV3drs80358595
GWAS Ctlgrs80358595
Max Magnitude6
rs80358595, also known as E1157X, c.3469G>T and p.Glu1157Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358595(T;T)
Alt rs80358595(T;T)
Reference rs80358595(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.32911961G>T
CLNSRC ClinVar
CLNACC RCV000044204.2, RCV000113183.1,