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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.900 0.960 274 2005 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.900 0.966 29 2005 2019
dbSNP: rs121912472
rs121912472
0.925 0.080 9 5073742 missense variant G/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.810 1.000 4 2006 2019
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: 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
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: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
0.800 1.000 2 2005 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
Digestive System Diseases; Cardiovascular Diseases 0.770 0.900 10 2006 2016
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032461
Disease: Polycythemia
Polycythemia
Hemic and Lymphatic Diseases 0.750 1.000 5 2006 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
Hemic and Lymphatic Diseases 0.710 1.000 1 2008 2008
dbSNP: rs1057519721
rs1057519721
0.882 0.120 9 5078360 missense variant A/G snv
Acute lymphoblastic leukemia with lymphomatous features
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2012
dbSNP: rs1057519722
rs1057519722
1.000 0.120 9 5078361 missense variant G/C snv 4.0E-06
Acute lymphoblastic leukemia with lymphomatous features
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2012
dbSNP: rs1057519723
rs1057519723
0.925 0.120 9 5078362 missense variant A/C;G;T snv
Acute lymphoblastic leukemia with lymphomatous features
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 2 2017 2018
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snv 0.23
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
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: 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: rs12342421
rs12342421
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs150221602
rs150221602
1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs16922576
rs16922576
9 5064193 intron variant T/C snv 0.25
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1887428
rs1887428
1.000 0.080 9 4984530 5 prime UTR variant G/C;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1887428
rs1887428
1.000 0.080 9 4984530 5 prime UTR variant G/C;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs202237966
rs202237966
9 5089770 missense variant G/A snv 1.7E-05
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019