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: rs1057519721
rs1057519721
0.882 0.120 9 5078360 missense variant A/G snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1057520016
rs1057520016
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10974944
rs10974944
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.810 1.000 2 2009 2010
dbSNP: rs12339666
rs12339666
0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12343867
rs12343867
0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1319313254
rs1319313254
9 5050807 missense variant C/T snv 4.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615
0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs368927897
rs368927897
0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4495487
rs4495487
0.925 0.080 9 5072798 intron variant T/C snv 0.23
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.800 0.970 263 2005 2019