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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.100 0.982 222 2005 2020
dbSNP: rs1057520016
rs1057520016
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10815148
rs10815148
0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12343867
rs12343867
0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3808850
rs3808850
0.925 0.080 9 4983311 upstream gene variant T/A;C snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7046736
rs7046736
0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008