rs28909982
From SNPedia
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 |
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, |