JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Disease: Acute Megakaryocytic Leukemias ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913504
rs121913504 		0.882 0.080 19 17837200 missense variant G/A snv
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.710 1.000 1 2006 2006
dbSNP: rs1057519770
rs1057519770 		0.882 0.160 19 17843825 missense variant A/G snv
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs201283129
rs201283129 		0.882 0.160 19 17838329 missense variant C/A;G snv 2.0E-05
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs758959409
rs758959409 		0.882 0.160 19 17835160 missense variant C/A;T snv 4.0E-06
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs3212723
rs3212723 		0.925 0.040 19 17843406 missense variant G/T snv 6.2E-03 2.6E-02
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs3213409
rs3213409 		0.925 0.040 19 17834887 missense variant C/T snv 8.6E-03 7.3E-03
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2006 2006