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rs276174913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174913(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379431
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174913
ebirs276174913
HLIrs276174913
Exacrs276174913
Varsomers276174913
Maprs276174913
PheGenIrs276174913
hapmaprs276174913
1000 genomesrs276174913
hgdprs276174913
ensemblrs276174913
gopubmedrs276174913
geneviewrs276174913
scholarrs276174913
googlers276174913
pharmgkbrs276174913
gwascentralrs276174913
openSNPrs276174913
23andMers276174913
23andMe allrs276174913
SNP Nexus

SNPshotrs276174913
SNPdbers276174913
MSV3drs276174913
GWAS Ctlgrs276174913
Max Magnitude6
rs276174913, also known as Q2957X, c.8869C>T and p.Gln2957Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174913(T;T)
Alt rs276174913(T;T)
Reference rs276174913(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32953568C>T
CLNSRC ClinVar
CLNACC RCV000031773.4, RCV000045645.2,