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.
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
CUI: C2675105
Disease: BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 0
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
66 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Myeloid Metaplasia
CUI: C0027013
Disease: Myeloid Metaplasia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Sepsis
CUI: C0243026
Disease: Sepsis
144 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Septicemia
CUI: C0036690
Disease: Septicemia
141 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
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
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
Blast Phase
CUI: C0005699
Disease: Blast Phase
14 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1 2006 2006
Granulocytosis
CUI: C1282609
Disease: Granulocytosis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
148 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
Leukoerythroblastic Anemia
CUI: C0002890
Disease: Leukoerythroblastic Anemia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
Myelodysplastic/myeloproliferative neoplasm, unclassifiable
CUI: C1328061
Disease: Myelodysplastic/myeloproliferative neoplasm, unclassifiable
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
CUI: C4303426
Disease: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
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
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
Chronic eosinophilic leukemia
CUI: C0346421
Disease: Chronic eosinophilic leukemia
9 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
Disseminated eosinophilic collagen disease
CUI: C0263662
Disease: Disseminated eosinophilic collagen disease
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
Hypereosinophilic syndrome
CUI: C1540912
Disease: Hypereosinophilic syndrome
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
Monoclonal Gammopathy of Undetermined Significance
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
20 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
Retinal Vein Occlusion
CUI: C0035328
Disease: Retinal Vein Occlusion
15 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
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