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rs276174819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174819(-;-)
Make rs276174819(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336530
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174819
ebirs276174819
HLIrs276174819
Exacrs276174819
Varsomers276174819
Maprs276174819
PheGenIrs276174819
hapmaprs276174819
1000 genomesrs276174819
hgdprs276174819
ensemblrs276174819
gopubmedrs276174819
geneviewrs276174819
scholarrs276174819
googlers276174819
pharmgkbrs276174819
gwascentralrs276174819
openSNPrs276174819
23andMers276174819
23andMe allrs276174819
SNP Nexus

SNPshotrs276174819
SNPdbers276174819
MSV3drs276174819
GWAS Ctlgrs276174819
Max Magnitude6
rs276174819, also known as 2403insA, c.2175_2176insA and p.Lys725_Val726?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174819(A;A)
Alt rs276174819(A;A)
Reference rs276174819(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32910667dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031357.4,