RS17879961 CHEK2
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What This Variant Does
"This SNP, a variant in the CHEK2 gene, is 1 of 25 SNPs reported to represent independently minor, bu...
Associated Conditions
CHEK2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer
susceptibility to
Adrenal cortex carcinoma
Gastrointestinal carcinoma
Malignant tumor of breast
Predisposition to cancer
Breast and/or ovarian cancer
CHEK2-related disorder
TUMOR PREDISPOSITION SYNDROME 4
BREAST/PROSTATE/COLORECTAL
Prostate cancer
Familial prostate cancer
GWAS Studies (15)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| ICD10 E28.2: Polycystic ovarian syndrome | A | OR: 0.62 | 3E-20 | PubMed |
| Squamous cell lung carcinoma (conditioned on cigarettes per day) | A | OR: 2.59 | 3E-18 | PubMed |
| Squamous cell lung carcinoma | G | β: 0.351 | 3E-17 | PubMed |
| Aerodigestive squamous cell cancer (pleiotropy) | G | β: 0.43 | 1E-15 | PubMed |
| Lung cancer | A | OR: 2.63 | 1E-13 | PubMed |
| Thyroid cancer | G | OR: 0.78 | 1E-13 | PubMed |
| Lung cancer | A | OR: 1.55 | 6E-13 | PubMed |
| Thyroid cancer | G | OR: 0.75 | 7E-13 | PubMed |
| Squamous cell lung carcinoma | — | OR: 1.21 | 5E-11 | PubMed |
| Lung cancer (conditioned on cigarettes per day) | A | OR: 1.62 | 5E-11 | PubMed |
| Uterine fibroids | G | OR: 0.3 | 7E-11 | PubMed |
| Female infertility (anovulatory) | G | OR: 1.35 | 2E-10 | PubMed |
| Breast cancer | G | OR: 1.26 | 1E-8 | PubMed |
| Myeloproliferative neoplasms | G | OR: 2.23 | 1E-7 | PubMed |
| Breast cancer | G | OR: 1.37 | 8E-7 | PubMed |
Other Variants in CHEK2