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rs80358429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358429(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332892
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358429
ebirs80358429
HLIrs80358429
Exacrs80358429
Varsomers80358429
Maprs80358429
PheGenIrs80358429
hapmaprs80358429
1000 genomesrs80358429
hgdprs80358429
ensemblrs80358429
gopubmedrs80358429
geneviewrs80358429
scholarrs80358429
googlers80358429
pharmgkbrs80358429
gwascentralrs80358429
openSNPrs80358429
23andMers80358429
23andMe allrs80358429
SNP Nexus

SNPshotrs80358429
SNPdbers80358429
MSV3drs80358429
GWAS Ctlgrs80358429
Max Magnitude6
rs80358429, also known as Q472X, c.1414C>T and p.Gln472Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358429(T;T)
Alt rs80358429(T;T)
Reference rs80358429(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907029C>T
CLNSRC ClinVar
CLNACC RCV000043802.2, RCV000112920.1,