Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913504
rs121913504
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

dbSNP: rs121913504
rs121913504
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

dbSNP: rs1057519770
rs1057519770
G 0.700 GeneticVariation CLINVAR Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. 18397343

2008

dbSNP: rs201283129
rs201283129
G 0.700 GeneticVariation CLINVAR Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. 18397343

2008

dbSNP: rs201283129
rs201283129
A 0.700 GeneticVariation CLINVAR Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. 18397343

2008

dbSNP: rs758959409
rs758959409
T 0.700 GeneticVariation CLINVAR Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. 18397343

2008

dbSNP: rs3212723
rs3212723
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

dbSNP: rs3213409
rs3213409
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