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rs80359296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359296(-;-)
Make rs80359296(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333126
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359296
ebirs80359296
HLIrs80359296
Exacrs80359296
Varsomers80359296
Maprs80359296
PheGenIrs80359296
hapmaprs80359296
1000 genomesrs80359296
hgdprs80359296
ensemblrs80359296
gopubmedrs80359296
geneviewrs80359296
scholarrs80359296
googlers80359296
pharmgkbrs80359296
gwascentralrs80359296
openSNPrs80359296
23andMers80359296
23andMe allrs80359296
SNP Nexus

SNPshotrs80359296
SNPdbers80359296
MSV3drs80359296
GWAS Ctlgrs80359296
Max Magnitude6
rs80359296, also known as 1876insG, c.1648_1649insG and p.Glu550?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359296(G;G)
Alt rs80359296(G;G)
Reference rs80359296(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907263dupG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112950.1,