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: 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: 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: rs142269166
rs142269166 		1.000 0.040 9 5126715 missense variant A/G snv 2.0E-03 2.1E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1479478620
rs1479478620 		1.000 0.040 9 5126768 missense variant A/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2274471
rs2274471 		1.000 0.040 9 4985879 intron variant A/G snv 0.21
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs59384377
rs59384377 		1.000 0.080 9 5005034 intron variant A/T snv 0.26
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
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: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C4016234
Disease: ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC 		0.700 0
dbSNP: rs7046736
rs7046736 		0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; 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
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: rs771912975
rs771912975 		1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		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: 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: 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