Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.710 | GeneticVariation | BEFREE | JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model. | 16843266 | 2006 |
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A | 0.710 | GeneticVariation | CLINVAR | JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model. | 16843266 | 2006 |
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G | 0.700 | GeneticVariation | CLINVAR | Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. | 18397343 | 2008 |
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G | 0.700 | GeneticVariation | CLINVAR | Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. | 18397343 | 2008 |
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A | 0.700 | GeneticVariation | CLINVAR | Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. | 18397343 | 2008 |
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T | 0.700 | GeneticVariation | CLINVAR | Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. | 18397343 | 2008 |
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0.010 | GeneticVariation | BEFREE | JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model. | 16843266 | 2006 |
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0.010 | GeneticVariation | BEFREE | JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model. | 16843266 | 2006 |