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rs80359154

From SNPedia

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


Make rs80359154(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379814
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359154
ebirs80359154
HLIrs80359154
Exacrs80359154
Varsomers80359154
Maprs80359154
PheGenIrs80359154
hapmaprs80359154
1000 genomesrs80359154
hgdprs80359154
ensemblrs80359154
gopubmedrs80359154
geneviewrs80359154
scholarrs80359154
googlers80359154
pharmgkbrs80359154
gwascentralrs80359154
openSNPrs80359154
23andMers80359154
23andMe allrs80359154
SNP Nexus

SNPshotrs80359154
SNPdbers80359154
MSV3drs80359154
GWAS Ctlgrs80359154
Max Magnitude6
rs80359154, also known as Y3006X, c.9018C>A and p.Tyr3006Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359154(A;A)
Alt rs80359154(A;A)
Reference Rs80359154(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.32953951C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000045689.2, RCV000114031.3, RCV000131053.2,