Source: ALL

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: rs104894808
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 1.000 4 2000 2002
dbSNP: rs104894808
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		0.700 1.000 1 2002 2002
dbSNP: rs104894808
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv
CUI: C4016507
Disease: THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA 		0.700 0
dbSNP: rs104894808
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2002 2002