RS77375493 JAK2
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What This Variant Does
"rs77375493, also known as V617F or Val617Phe, is a variant considered to generally be acquired (i.e....
Associated Conditions
Acquired polycythemia vera
Primary myelofibrosis
Acute myeloid leukemia
Budd-Chiari syndrome
susceptibility to
somatic
Thrombocythemia 3
Primary familial polycythemia due to EPO receptor mutation
Myeloproliferative disorder
Polycythemia
6 conditions
Splenomegaly
JAK2-related disorder
Thrombocythemia 3
Acquired polycythemia vera
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Myeloproliferative disease (PheCode 200) | G | OR: 5.06 | 1E-323 | PubMed |
| Polycythemia vera (PheCode 200.1) | G | OR: 5.33 | 1E-323 | PubMed |
| red cell diameter width (RDW, mean, inv-norm transformed) | G | OR: 2.63 | 1E-323 | PubMed |
| Myeloproliferative disease (PheCode 200) | G | OR: 5.14 | 1E-323 | PubMed |
| red cell diameter width (RDW, maximum, inv-norm transformed) | G | OR: 2.26 | 9E-308 | PubMed |
| Polycythemia vera (PheCode 200.1) | G | OR: 5.19 | 4E-305 | PubMed |
| red cell diameter width (RDW, minimum, inv-norm transformed) | G | OR: 2.17 | 2E-264 | PubMed |
| platelet count (maximum, inv-norm transformed) | G | OR: 2.83 | 5E-234 | PubMed |
| red cell diameter width (RDW, mean, inv-norm transformed) | G | OR: 2.42 | 6E-206 | PubMed |
| Other diseases of blood and blood-forming organs (PheCode 289) | G | OR: 3.42 | 2E-199 | PubMed |
| red cell diameter width (RDW, maximum, inv-norm transformed) | G | OR: 2.14 | 3E-193 | PubMed |
| monocyte (fraction, mean, inv-norm transformed) | G | OR: 1.78 | 8E-171 | PubMed |
| red blood cell count (RBC, maximum, inv-norm transformed) | G | OR: 1.59 | 4E-165 | PubMed |
| white blood cell count (WBC, mean, inv-norm transformed) | G | OR: 1.69 | 2E-160 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed) | G | OR: 1.53 | 1E-157 | PubMed |
| lymphocyte (fraction, mean, inv-norm transformed) | G | OR: 1.49 | 8E-155 | PubMed |
| red cell diameter width (RDW, minimum, inv-norm transformed) | G | OR: 1.97 | 2E-134 | PubMed |
| monocyte (fraction, minimum, inv-norm transformed) | G | OR: 1.53 | 2E-133 | PubMed |
| white blood cell count (WBC, maximum, inv-norm transformed) | G | OR: 1.48 | 5E-132 | PubMed |
| neutrophil (fraction, mean, inv-norm transformed) | G | OR: 1.59 | 6E-129 | PubMed |
Other Variants in JAK2