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.
Constitutional Symptom
CUI: C0009812
Disease: Constitutional Symptom
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2012 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
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
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
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
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
anemia hemoglobin
CUI: C0740992
Disease: anemia hemoglobin
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
Chromosome 5, trisomy 5q
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Cranial nerve palsies
CUI: C0151311
Disease: Cranial nerve palsies
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2014 2014
Duodenal Cancer
CUI: C0541912
Disease: Duodenal Cancer
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
Granulocytic Sarcoma
CUI: C0152276
Disease: Granulocytic Sarcoma
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012
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
Heparin-induced thrombocytopenia with thrombosis
CUI: C0272275
Disease: Heparin-induced thrombocytopenia with thrombosis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2018 2018
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
Malignant neoplasm of duodenum
CUI: C0153426
Disease: Malignant neoplasm of duodenum
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
Mediastinal (Thymic) Large B-Cell Lymphoma
CUI: C1292754
Disease: Mediastinal (Thymic) Large B-Cell Lymphoma
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Megakaryocytic hyperplasia
CUI: C0025167
Disease: Megakaryocytic hyperplasia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Myelodysplastic Syndrome with Isolated del(5q)
CUI: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Myelodysplastic-Myeloproliferative Diseases
CUI: C1301355
Disease: Myelodysplastic-Myeloproliferative Diseases
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1 2013 2013
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
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