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: rs58788809
rs58788809 		9 5038597 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs764634461
rs764634461 		1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.050 1.000 5 2012 2017
dbSNP: rs1159782
rs1159782 		1.000 0.040 9 5078117 intron variant T/C snv 0.23
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
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: rs12343867
rs12343867 		0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
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: 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: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; 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: C0349532
Disease: Gastric lymphoma
Gastric lymphoma 		Digestive System Diseases; Neoplasms; Immune System Diseases; 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: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		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: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; 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: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; 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: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4495487
rs4495487 		0.925 0.080 9 5072798 intron variant T/C snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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: rs4495487
rs4495487 		0.925 0.080 9 5072798 intron variant T/C snv 0.23
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs73393498
rs73393498 		9 5067832 intron variant T/C snv 4.8E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
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