rs104894808, GATA1

N. diseases: 4
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 0.851 0.120 X 48792376 missense variant G/T 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 0.851 0.120 X 48792376 missense variant G/T snv 0.700 1.000 1 2002 2002
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
CUI: C4016507
Disease: THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
2 0.851 0.120 X 48792376 missense variant G/T snv 0.700 0
Anemia
CUI: C0002871
Disease: Anemia
94 0.851 0.120 X 48792376 missense variant G/T snv 0.010 1.000 1 2002 2002