Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359133(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379332
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359133
ebirs80359133
HLIrs80359133
Exacrs80359133
Varsomers80359133
Maprs80359133
PheGenIrs80359133
hapmaprs80359133
1000 genomesrs80359133
hgdprs80359133
ensemblrs80359133
gopubmedrs80359133
geneviewrs80359133
scholarrs80359133
googlers80359133
pharmgkbrs80359133
gwascentralrs80359133
openSNPrs80359133
23andMers80359133
23andMe allrs80359133
SNP Nexus

SNPshotrs80359133
SNPdbers80359133
MSV3drs80359133
GWAS Ctlgrs80359133
Max Magnitude6
rs80359133, also known as E2924X, c.8770G>T and p.Glu2924Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359133(T;T)
Alt rs80359133(T;T)
Reference rs80359133(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.32953469G>T
CLNSRC ClinVar
CLNACC RCV000045624.3, RCV000083149.3,