JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
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: rs150221602
rs150221602 		1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
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