RS555607708 CHEK2
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What This Variant Does
"rs555607708, also known as 1100delC, is a SNP in the checkpoint kinase 2 CHEK2 gene on chromosome 22...
Associated Conditions
CHEK2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer
susceptibility to
Breast neoplasm
Leiomyosarcoma
Breast cancer
Bone osteosarcoma
Prostate cancer
Li-Fraumeni syndrome
Astrocytoma
Breast and/or ovarian cancer
Malignant tumor of breast
Carcinoma of pancreas
GWAS Studies (11)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| White blood cell count | — | OR: 0.24 | 2E-30 | PubMed |
| Lymphocyte count | — | OR: 0.21 | 7E-25 | PubMed |
| Mean platelet volume | — | OR: 0.17 | 3E-22 | PubMed |
| Neutrophil count | — | OR: 0.17 | 4E-16 | PubMed |
| Prostate cancer | A | OR: 1.64 | 1E-15 | PubMed |
| Prostate cancer | A | OR: 1.64 | 1E-15 | PubMed |
| Mean corpuscular hemoglobin concentration | — | OR: 0.14 | 7E-13 | PubMed |
| Platelet count | — | OR: 0.13 | 1E-10 | PubMed |
| Platelet distribution width | — | OR: 0.13 | 6E-10 | PubMed |
| Clonal hematopoiesis (mutational barcode method) | A | OR: 2.05 | 9E-10 | PubMed |
| Prostate cancer | A | OR: 1.48 | 1E-8 | PubMed |
Other Variants in CHEK2