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

rs276174847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TG) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174847(-;-)
Make rs276174847(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339097
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174847
ebirs276174847
HLIrs276174847
Exacrs276174847
Varsomers276174847
Maprs276174847
PheGenIrs276174847
hapmaprs276174847
1000 genomesrs276174847
hgdprs276174847
ensemblrs276174847
gopubmedrs276174847
geneviewrs276174847
scholarrs276174847
googlers276174847
pharmgkbrs276174847
gwascentralrs276174847
openSNPrs276174847
23andMers276174847
23andMe allrs276174847
SNP Nexus

SNPshotrs276174847
SNPdbers276174847
MSV3drs276174847
GWAS Ctlgrs276174847
Max Magnitude6
rs276174847, also known as 4970insTG, c.4742_4743insTG and p.Glu1581?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174847(TG;TG)
Alt rs276174847(TG;TG)
Reference rs276174847(;)
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.32913234_32913235insTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044481.2, RCV000113340.1,