rs104894815, 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, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
5 0.776 0.120 X 48792337 missense variant G/A snv 0.700 1.000 4 2000 2002
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
12 0.776 0.120 X 48792337 missense variant G/A snv 0.700 1.000 1 2000 2000
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
CUI: C4016507
Disease: THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
2 0.776 0.120 X 48792337 missense variant G/A snv 0.700 0
Anemia
CUI: C0002871
Disease: Anemia
94 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
Anemia of inadequate production
CUI: C0678199
Disease: Anemia of inadequate production
3 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002