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rs80358573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358573(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337620
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358573
ebirs80358573
HLIrs80358573
Exacrs80358573
Varsomers80358573
Maprs80358573
PheGenIrs80358573
hapmaprs80358573
1000 genomesrs80358573
hgdprs80358573
ensemblrs80358573
gopubmedrs80358573
geneviewrs80358573
scholarrs80358573
googlers80358573
pharmgkbrs80358573
gwascentralrs80358573
openSNPrs80358573
23andMers80358573
23andMe allrs80358573
SNP Nexus

SNPshotrs80358573
SNPdbers80358573
MSV3drs80358573
GWAS Ctlgrs80358573
Max Magnitude6
rs80358573, also known as Q1089X, c.3265C>T and p.Gln1089Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358573(T;T)
Alt rs80358573(T;T)
Reference rs80358573(C;C)
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.32911757C>T
CLNSRC ClinVar
CLNACC RCV000044164.2, RCV000113153.1,