Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.030 1.000 3 2005 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2015 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2613439
Disease: Extramedullary Hematopoiesis (disorder)
Extramedullary Hematopoiesis (disorder) 		0.020 1.000 2 2007 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
Myeloproliferative Neoplasm, Unclassifiable 		0.020 1.000 2 2013 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 1.000 2 2009 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
Subacute Bacterial Endocarditis 		0.020 1.000 2 2008 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.020 0.500 2 2007 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2016 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.020 1.000 2 2005 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3665444
Disease: Neutrophilia (disorder)
Neutrophilia (disorder) 		0.020 1.000 2 2006 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		0.020 1.000 2 2009 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.020 0.500 2 2007 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.020 1.000 2 2010 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3805232
Disease: Post polycythaemia vera myelofibrosis
Post polycythaemia vera myelofibrosis 		0.020 1.000 2 2011 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.020 1.000 2 2005 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.020 1.000 2 2015 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1301355
Disease: Myelodysplastic-Myeloproliferative Diseases
Myelodysplastic-Myeloproliferative Diseases 		0.010 < 0.001 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0152276
Disease: Granulocytic Sarcoma
Granulocytic Sarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.010 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4303426
Disease: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis 		0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 1.000 1 2005 2005