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rs80358997

From SNPedia

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


Make rs80358997(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357845
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358997
ebirs80358997
HLIrs80358997
Exacrs80358997
Varsomers80358997
Maprs80358997
PheGenIrs80358997
hapmaprs80358997
1000 genomesrs80358997
hgdprs80358997
ensemblrs80358997
gopubmedrs80358997
geneviewrs80358997
scholarrs80358997
googlers80358997
pharmgkbrs80358997
gwascentralrs80358997
openSNPrs80358997
23andMers80358997
23andMe allrs80358997
SNP Nexus

SNPshotrs80358997
SNPdbers80358997
MSV3drs80358997
GWAS Ctlgrs80358997
Max Magnitude6
rs80358997, also known as W2574X, c.7721G>A and p.Trp2574Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358997(A;A)
Alt rs80358997(A;A)
Reference rs80358997(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.32931982G>A
CLNSRC ClinVar
CLNACC RCV000045295.2, RCV000077408.3,