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: rs368927897
rs368927897 		0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs41316003
rs41316003 		1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
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: rs62541534
rs62541534 		9 5028921 intron variant C/G snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
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: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7849191
rs7849191 		0.882 0.120 9 4988761 intron variant C/T snv 0.50
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs7869668
rs7869668 		9 5069837 intron variant G/A snv 0.61
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
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: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2675105
Disease: BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC 		0.700 0
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.100 0.974 269 2005 2020
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.100 0.982 222 2005 2020
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.100 0.944 72 2005 2019
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		Hemic and Lymphatic Diseases 0.100 0.920 25 2006 2018
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 21 2007 2019
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.100 0.889 18 2008 2019
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.100 0.929 14 2005 2018
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 1.000 13 2006 2018
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.100 0.818 11 2006 2017
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.100 1.000 10 2006 2017
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.080 1.000 8 2005 2019
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.080 1.000 8 2007 2016
dbSNP: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.080 1.000 8 2007 2014