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rs80359694

From SNPedia

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


Make rs80359694(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363270
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359694
ebirs80359694
HLIrs80359694
Exacrs80359694
Varsomers80359694
Maprs80359694
PheGenIrs80359694
hapmaprs80359694
1000 genomesrs80359694
hgdprs80359694
ensemblrs80359694
gopubmedrs80359694
geneviewrs80359694
scholarrs80359694
googlers80359694
pharmgkbrs80359694
gwascentralrs80359694
openSNPrs80359694
23andMers80359694
23andMe allrs80359694
SNP Nexus

SNPshotrs80359694
SNPdbers80359694
MSV3drs80359694
GWAS Ctlgrs80359694
Max Magnitude6
rs80359694, also known as 8296delGT, c.8068_8069delGT and p.Val2690Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359694(;)
Alt rs80359694(;)
Reference rs80359694(TG;TG)
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.32937407_32937408delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045412.2, RCV000113866.1,