Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358683(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338880
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358683
ebirs80358683
HLIrs80358683
Exacrs80358683
Varsomers80358683
Maprs80358683
PheGenIrs80358683
hapmaprs80358683
1000 genomesrs80358683
hgdprs80358683
ensemblrs80358683
gopubmedrs80358683
geneviewrs80358683
scholarrs80358683
googlers80358683
pharmgkbrs80358683
gwascentralrs80358683
openSNPrs80358683
23andMers80358683
23andMe allrs80358683
SNP Nexus

SNPshotrs80358683
SNPdbers80358683
MSV3drs80358683
GWAS Ctlgrs80358683
Max Magnitude6
rs80358683, also known as Q1509X, c.4525C>T and p.Gln1509Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358683(T;T)
Alt rs80358683(T;T)
Reference rs80358683(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.32913017C>T
CLNSRC ClinVar
CLNACC RCV000044427.2, RCV000113311.1,