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rs80359149

From SNPedia

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


Make rs80359149(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379766
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359149
ebirs80359149
HLIrs80359149
Exacrs80359149
Varsomers80359149
Maprs80359149
PheGenIrs80359149
hapmaprs80359149
1000 genomesrs80359149
hgdprs80359149
ensemblrs80359149
gopubmedrs80359149
geneviewrs80359149
scholarrs80359149
googlers80359149
pharmgkbrs80359149
gwascentralrs80359149
openSNPrs80359149
23andMers80359149
23andMe allrs80359149
SNP Nexus

SNPshotrs80359149
SNPdbers80359149
MSV3drs80359149
GWAS Ctlgrs80359149
Max Magnitude6
rs80359149, also known as W2990X, c.8970G>A and p.Trp2990Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359149(A;A)
Alt rs80359149(A;A)
Reference rs80359149(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953903G>A
CLNSRC ClinVar
CLNACC RCV000045675.3, RCV000114026.1,