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rs80359148

From SNPedia

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


Make rs80359148(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32379765
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359148
ebirs80359148
HLIrs80359148
Exacrs80359148
Varsomers80359148
Maprs80359148
PheGenIrs80359148
hapmaprs80359148
1000 genomesrs80359148
hgdprs80359148
ensemblrs80359148
gopubmedrs80359148
geneviewrs80359148
scholarrs80359148
googlers80359148
pharmgkbrs80359148
gwascentralrs80359148
openSNPrs80359148
23andMers80359148
23andMe allrs80359148
SNP Nexus

SNPshotrs80359148
SNPdbers80359148
MSV3drs80359148
GWAS Ctlgrs80359148
Max Magnitude6
rs80359148, also known as W2990X, c.8969G>A and p.Trp2990Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359148(A;A)
Alt rs80359148(A;A)
Reference rs80359148(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32953902G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000114025.2, RCV000131050.2,