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rs80359211

From SNPedia

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


Make rs80359211(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394812
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359211
ebirs80359211
HLIrs80359211
Exacrs80359211
Varsomers80359211
Maprs80359211
PheGenIrs80359211
hapmaprs80359211
1000 genomesrs80359211
hgdprs80359211
ensemblrs80359211
gopubmedrs80359211
geneviewrs80359211
scholarrs80359211
googlers80359211
pharmgkbrs80359211
gwascentralrs80359211
openSNPrs80359211
23andMers80359211
23andMe allrs80359211
SNP Nexus

SNPshotrs80359211
SNPdbers80359211
MSV3drs80359211
GWAS Ctlgrs80359211
Max Magnitude6
rs80359211, also known as W3127X, c.9380G>A and p.Trp3127Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359211(A;A)
Alt rs80359211(A;A)
Reference rs80359211(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.32968949G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031818.4, RCV000045806.2, RCV000131047.2,