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: rs182123615
rs182123615
0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006