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rs28909982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2.9 2x higher risk for breast cancer
Make rs28909982(G;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position28725338
GeneCHEK2
is asnp
is mentioned by
dbSNPrs28909982
ebirs28909982
HLIrs28909982
Exacrs28909982
Varsomers28909982
Maprs28909982
PheGenIrs28909982
hapmaprs28909982
1000 genomesrs28909982
hgdprs28909982
ensemblrs28909982
gopubmedrs28909982
geneviewrs28909982
scholarrs28909982
googlers28909982
pharmgkbrs28909982
gwascentralrs28909982
openSNPrs28909982
23andMers28909982
23andMe allrs28909982
SNP Nexus

SNPshotrs28909982
SNPdbers28909982
MSV3drs28909982
GWAS Ctlgrs28909982
Max Magnitude2.9

rs28909982, also known as c.349A>G or p.Arg117Gly, represents a very rare mutation in the CHEK2 gene on chromosome 22.

A 2016 publication study involving 42,000 breast cancer cases concluded that rs28909982(G) carriers had an odds ratio of 2.0 (CI:1.1-3.7; p=0.003).10.1136/jmedgenet-2016-103839


ClinVar
Risk rs28909982(G;G)
Alt rs28909982(G;G)
Reference rs28909982(A;A)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed 1
HGVS NC_000022.10:g.29121326T>C
CLNSRC Ambry Genetics ClinVar GeneDx
CLNACC RCV000116012.5, RCV000204429.2, RCV000212414.2,