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rs80358810

From SNPedia

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


Make rs80358810(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326564
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358810
ebirs80358810
HLIrs80358810
Exacrs80358810
Varsomers80358810
Maprs80358810
PheGenIrs80358810
hapmaprs80358810
1000 genomesrs80358810
hgdprs80358810
ensemblrs80358810
gopubmedrs80358810
geneviewrs80358810
scholarrs80358810
googlers80358810
pharmgkbrs80358810
gwascentralrs80358810
openSNPrs80358810
23andMers80358810
23andMe allrs80358810
SNP Nexus

SNPshotrs80358810
SNPdbers80358810
MSV3drs80358810
GWAS Ctlgrs80358810
Max Magnitude6
rs80358810, also known as W194X, c.582G>A and p.Trp194Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358810(A;A)
Alt rs80358810(A;A)
Reference rs80358810(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32900701G>A
CLNSRC ClinVar
CLNACC RCV000031581.4, RCV000044768.2,