RS147001633 DNMT3A
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What This Variant Does
"CLNSIG=5
Associated Conditions
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Abnormality of the nervous system
Clonal Cytopenia of Undetermined Significance
Intellectual disability
DNMT3A-related disorder
EBV-positive nodal T- and NK-cell lymphoma
Neoplasm
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Abnormality of the nervous system
Clonal Cytopenia of Undetermined Significance
Intellectual disability
GWAS Studies (7)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Myeloproliferative disease (PheCode 200) | C | OR: 2.28 | 1E-33 | PubMed |
| Myeloproliferative disease (PheCode 200) | C | OR: 2.32 | 5E-19 | PubMed |
| Myeloid leukemia (PheCode 204.2) | C | OR: 2.58 | 4E-16 | PubMed |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) | C | OR: 0.68 | 5E-15 | PubMed |
| Polycythemia vera (PheCode 200.1) | C | OR: 2.23 | 3E-12 | PubMed |
| Leukemia (PheCode 204) | C | OR: 1.64 | 3E-11 | PubMed |
| Pancytopenia (PheCode 284.1) | C | OR: 1.72 | 4E-11 | PubMed |
Other Variants in DNMT3A