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: rs121912473
rs121912473
0.925 0.080 9 5070026 missense variant AA/TT mnv
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
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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.900 0.960 274 2005 2019
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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.800 0.970 263 2005 2019
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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.800 0.966 175 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.900 0.966 29 2005 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: 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: C1318533
Disease: Secondary polycythemia
Secondary polycythemia
Neoplasms; Hemic and Lymphatic Diseases 0.060 1.000 6 2005 2011
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
Neoplasms; Immune System Diseases 0.040 1.000 4 2005 2009
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia
Hemic and Lymphatic Diseases 0.040 1.000 4 2005 2013
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.030 1.000 3 2005 2013
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
0.800 1.000 2 2005 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
Neoplasms 0.020 1.000 2 2005 2006
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Idiopathic Hypereosinophilic Syndrome
Hemic and Lymphatic Diseases 0.020 1.000 2 2005 2007
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0036690
Disease: Septicemia
Septicemia
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0024299
Disease: Lymphoma
Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0243026
Disease: Sepsis
Sepsis
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0027013
Disease: Myeloid Metaplasia
Myeloid Metaplasia
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005