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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.800 0.966 175 2005 2020
dbSNP: rs10815148
rs10815148
0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974944
rs10974944
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10974947
rs10974947
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12342421
rs12342421
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008