JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Familial erythrocytosis ×
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: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016