JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Polycythemia ×
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: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.750 1.000 5 2006 2012
dbSNP: rs771912975
rs771912975 		1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013