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: 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: 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
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: rs121912472
rs121912472 		0.925 0.080 9 5073742 missense variant G/C snv
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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: rs12339666
rs12339666 		0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12339666
rs12339666 		0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12340895
rs12340895 		1.000 0.080 9 5076691 intron variant C/A;G snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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
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: 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: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; 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: 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: rs12349785
rs12349785 		0.882 0.080 9 5076613 intron variant G/C snv 0.23
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014