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rs276174931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174931(-;-)
Make rs276174931(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332473
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174931
ebirs276174931
HLIrs276174931
Exacrs276174931
Varsomers276174931
Maprs276174931
PheGenIrs276174931
hapmaprs276174931
1000 genomesrs276174931
hgdprs276174931
ensemblrs276174931
gopubmedrs276174931
geneviewrs276174931
scholarrs276174931
googlers276174931
pharmgkbrs276174931
gwascentralrs276174931
openSNPrs276174931
23andMers276174931
23andMe allrs276174931
SNP Nexus

SNPshotrs276174931
SNPdbers276174931
MSV3drs276174931
GWAS Ctlgrs276174931
Max Magnitude6
rs276174931, also known as 1223insG, c.995_996insG and p.Ile332?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174931(G;G)
Alt rs276174931(G;G)
Reference rs276174931(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906610_32906611insG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112873.1,