rs77375493, INSL6;JAK2

N. diseases: 187
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2011 2017
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
15 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2005 2006
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
22 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 0.500 2 2007 2018
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2009 2015
Extramedullary Hematopoiesis (disorder)
CUI: C2613439
Disease: Extramedullary Hematopoiesis (disorder)
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2007 2007
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2006 2006
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2016 2018
Idiopathic Hypereosinophilic Syndrome
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
5 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2005 2007
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2015 2015
Lymphoproliferative Disorders
CUI: C0024314
Disease: Lymphoproliferative Disorders
14 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 0.500 2 2007 2009
Myeloproliferative Neoplasm, Unclassifiable
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
3 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2013 2015
Neutrophilia (disorder)
CUI: C3665444
Disease: Neutrophilia (disorder)
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2006 2008
Paroxysmal nocturnal hemoglobinuria
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
12 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2010 2019
Peripheral Arterial Diseases
CUI: C1704436
Disease: Peripheral Arterial Diseases
128 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2015 2016
Post polycythaemia vera myelofibrosis
CUI: C3805232
Disease: Post polycythaemia vera myelofibrosis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2011 2015
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2009 2013
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 1.000 2 2017 2018
Subacute Bacterial Endocarditis
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2008 2009
THROMBOCYTHEMIA 3
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 1.000 2 2005 2012
5q-syndrome
CUI: C0740302
Disease: 5q-syndrome
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Acquired von Willebrand's disease
CUI: C0272362
Disease: Acquired von Willebrand's disease
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2017 2017
Acromegaly
CUI: C0001206
Disease: Acromegaly
25 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012
Activated Protein C Resistance
CUI: C0600433
Disease: Activated Protein C Resistance
30 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
135 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
Acute erythroleukemia
CUI: C2930974
Disease: Acute erythroleukemia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009