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: 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: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0600502
Disease: Vascular Hemostatic Disorders
Vascular Hemostatic Disorders
Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia
Nervous System Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Myelodysplastic-Myeloproliferative Diseases
Hemic and Lymphatic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0005699
Disease: Blast Phase
Blast Phase
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
Neoplasms 0.020 0.500 2 2007 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
Immune System Diseases; Hemic and Lymphatic Diseases 0.020 0.500 2 2007 2009
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Myelofibrosis due to another disorder
0.040 0.750 4 2006 2010
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
Neoplasms 0.050 0.800 5 2007 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: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
Hemic and Lymphatic Diseases 0.060 0.833 6 2006 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
Hemic and Lymphatic Diseases 0.060 0.833 6 2006 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
Digestive System Diseases; Cardiovascular Diseases 0.070 0.857 7 2006 2016
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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
Digestive System Diseases; Cardiovascular Diseases 0.770 0.900 10 2006 2016
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: 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: 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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.900 0.960 274 2005 2019