JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Erythrocytosis familial, 1 ×
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: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.710 1.000 1 2008 2008
dbSNP: rs150221602
rs150221602 		1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs41316003
rs41316003 		1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016