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rs80358503

From SNPedia

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


Make rs80358503(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336731
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358503
ebirs80358503
HLIrs80358503
Exacrs80358503
Varsomers80358503
Maprs80358503
PheGenIrs80358503
hapmaprs80358503
1000 genomesrs80358503
hgdprs80358503
ensemblrs80358503
gopubmedrs80358503
geneviewrs80358503
scholarrs80358503
googlers80358503
pharmgkbrs80358503
gwascentralrs80358503
openSNPrs80358503
23andMers80358503
23andMe allrs80358503
SNP Nexus

SNPshotrs80358503
SNPdbers80358503
MSV3drs80358503
GWAS Ctlgrs80358503
Max Magnitude6
rs80358503, also known as Y792X, c.2376C>A and p.Tyr792Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358503(A;A)
Alt rs80358503(A;A)
Reference rs80358503(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32910868C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000043981.2, RCV000077277.3, RCV000131058.2,