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rs80358892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358892(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32341000
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358892
ebirs80358892
HLIrs80358892
Exacrs80358892
Varsomers80358892
Maprs80358892
PheGenIrs80358892
hapmaprs80358892
1000 genomesrs80358892
hgdprs80358892
ensemblrs80358892
gopubmedrs80358892
geneviewrs80358892
scholarrs80358892
googlers80358892
pharmgkbrs80358892
gwascentralrs80358892
openSNPrs80358892
23andMers80358892
23andMe allrs80358892
SNP Nexus

SNPshotrs80358892
SNPdbers80358892
MSV3drs80358892
GWAS Ctlgrs80358892
Max Magnitude6
rs80358892, also known as Y2215X, c.6645C>G and p.Tyr2215Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358892(G;G)
Alt rs80358892(G;G)
Reference rs80358892(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915137C>G
CLNSRC ClinVar
CLNACC RCV000113621.1,