rs104894816, GATA1

N. diseases: 6
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
5 0.827 0.120 X 48792377 missense variant A/G snv 0.700 1.000 4 2000 2002
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
12 0.827 0.120 X 48792377 missense variant A/G snv 0.700 1.000 3 2001 2007
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.827 0.120 X 48792377 missense variant A/G snv 0.700 1.000 1 2019 2019
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
2 0.827 0.120 X 48792377 missense variant A/G snv 0.700 0
Anemia
CUI: C0002871
Disease: Anemia
94 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002