rs104894809, GATA1

N. diseases: 9
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.
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
12 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.800 1.000 8 1977 2013
THROMBOCYTOPENIA 1 (disorder)
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
18 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.020 1.000 2 2002 2004
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2002 2002
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2002 2002
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2005 2005
Dyserythropoietic Anemia with Thrombocytopenia
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
3 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2004 2004
Gray Platelet Syndrome
CUI: C0272302
Disease: Gray Platelet Syndrome
14 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2007 2007
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2002 2002
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2002 2002