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rs80358883

From SNPedia

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


Make rs80358883(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340817
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358883
ebirs80358883
HLIrs80358883
Exacrs80358883
Varsomers80358883
Maprs80358883
PheGenIrs80358883
hapmaprs80358883
1000 genomesrs80358883
hgdprs80358883
ensemblrs80358883
gopubmedrs80358883
geneviewrs80358883
scholarrs80358883
googlers80358883
pharmgkbrs80358883
gwascentralrs80358883
openSNPrs80358883
23andMers80358883
23andMe allrs80358883
SNP Nexus

SNPshotrs80358883
SNPdbers80358883
MSV3drs80358883
GWAS Ctlgrs80358883
Max Magnitude6
rs80358883, also known as Y2154X, c.6462T>G and p.Tyr2154Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358883(G;G)
Alt rs80358883(G;G)
Reference rs80358883(T;T)
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.32914954T>G
CLNSRC ClinVar
CLNACC RCV000044964.2, RCV000113596.1,