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
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases
0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Mucosa-Associated Lymphoid Tissue Lymphoma
0.010 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 1.000 1 2010 2010
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
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: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia
0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0040100
Disease: Thymoma
Thymoma
0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Heparin-induced thrombocytopenia with thrombosis
0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder
0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0002890
Disease: Leukoerythroblastic Anemia
Leukoerythroblastic Anemia
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 1.000 1 2005 2005
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
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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 1.000 1 2019 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Mediastinal (Thymic) Large B-Cell Lymphoma
0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0338575
Disease: Sagittal Sinus Thrombosis
Sagittal Sinus Thrombosis
0.010 1.000 1 2017 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Prefibrotic/Early Primary Myelofibrosis
0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
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
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
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
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
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
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Myelodysplastic-Myeloproliferative Diseases
0.010 < 0.001 1 2013 2013