JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Supraventricular tachycardia ×
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: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.060 1.000 6 2007 2013
dbSNP: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014