rs28909982

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	2.9	2x higher risk for breast cancer

Make rs28909982(G;G)

Reference

GRCh38 38.1/142

Chromosome

22

Position

28725338

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs28909982
dbSNP (classic)	rs28909982
ClinGen	rs28909982
ebi	rs28909982
HLI	rs28909982
Exac	rs28909982
Gnomad	rs28909982
Varsome	rs28909982
LitVar	rs28909982
Map	rs28909982
PheGenI	rs28909982
Biobank	rs28909982
1000 genomes	rs28909982
hgdp	rs28909982
ensembl	rs28909982
geneview	rs28909982
scholar	rs28909982
google	rs28909982
pharmgkb	rs28909982
gwascentral	rs28909982
openSNP	rs28909982
23andMe	rs28909982
SNPshot	rs28909982
SNPdbe	rs28909982
MSV3d	rs28909982
GWAS Ctlg	rs28909982

Max Magnitude

2.9

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	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	UniProtKB (protein)
CLNACC	RCV000116012.7, RCV000204429.3, RCV000212414.3,