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rs80358884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358884(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32329463
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358884
ebirs80358884
HLIrs80358884
Exacrs80358884
Varsomers80358884
Maprs80358884
PheGenIrs80358884
hapmaprs80358884
1000 genomesrs80358884
hgdprs80358884
ensemblrs80358884
gopubmedrs80358884
geneviewrs80358884
scholarrs80358884
googlers80358884
pharmgkbrs80358884
gwascentralrs80358884
openSNPrs80358884
23andMers80358884
23andMe allrs80358884
SNP Nexus

SNPshotrs80358884
SNPdbers80358884
MSV3drs80358884
GWAS Ctlgrs80358884
Max Magnitude6
rs80358884, also known as E218X, c.652G>T and p.Glu218Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358884(T;T)
Alt rs80358884(T;T)
Reference rs80358884(G;G)
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.32903600G>T
CLNSRC ClinVar
CLNACC RCV000044976.2, RCV000077377.3,