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rs80358859

From SNPedia

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


Make rs80358859(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340561
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358859
ebirs80358859
HLIrs80358859
Exacrs80358859
Varsomers80358859
Maprs80358859
PheGenIrs80358859
hapmaprs80358859
1000 genomesrs80358859
hgdprs80358859
ensemblrs80358859
gopubmedrs80358859
geneviewrs80358859
scholarrs80358859
googlers80358859
pharmgkbrs80358859
gwascentralrs80358859
openSNPrs80358859
23andMers80358859
23andMe allrs80358859
SNP Nexus

SNPshotrs80358859
SNPdbers80358859
MSV3drs80358859
GWAS Ctlgrs80358859
Max Magnitude6
rs80358859, also known as L2069X, c.6206T>G and p.Leu2069Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358859(G;G)
Alt rs80358859(G;G)
Reference rs80358859(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32914698T>G
CLNSRC ClinVar
CLNACC RCV000031607.5, RCV000044867.2,