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rs80359011

From SNPedia

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


Make rs80359011(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362574
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359011
ebirs80359011
HLIrs80359011
Exacrs80359011
Varsomers80359011
Maprs80359011
PheGenIrs80359011
hapmaprs80359011
1000 genomesrs80359011
hgdprs80359011
ensemblrs80359011
gopubmedrs80359011
geneviewrs80359011
scholarrs80359011
googlers80359011
pharmgkbrs80359011
gwascentralrs80359011
openSNPrs80359011
23andMers80359011
23andMe allrs80359011
SNP Nexus

SNPshotrs80359011
SNPdbers80359011
MSV3drs80359011
GWAS Ctlgrs80359011
Max Magnitude6
rs80359011, also known as W2619X, c.7857G>A and p.Trp2619Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359011(A;A)
Alt rs80359011(A;A)
Reference rs80359011(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32936711G>A
CLNSRC ClinVar
CLNACC RCV000031704.4, RCV000045331.2, RCV000162936.1,