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: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.100 1.000 10 2006 2017
dbSNP: rs923941004
rs923941004
1.000 0.040 9 5078334 missense variant T/C snv
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.010 1.000 1 2015 2015