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: 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: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2012
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: rs1057519721
rs1057519721 		0.882 0.120 9 5078360 missense variant 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: rs1057519721
rs1057519721 		0.882 0.120 9 5078360 missense variant A/G snv
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1057519722
rs1057519722 		1.000 0.120 9 5078361 missense variant G/C snv 4.0E-06
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
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
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
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
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
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: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
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: rs10815144
rs10815144 		0.882 0.080 9 5010192 intron variant G/A snv 0.62
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
dbSNP: rs10815144
rs10815144 		0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144 		0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
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: rs10815148
rs10815148 		0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10815148
rs10815148 		0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2014
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: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
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