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: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		0.800 1.000 8 1977 2013
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		0.020 1.000 2 2002 2004
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.010 1.000 1 2002 2002
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.010 1.000 1 2004 2004
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 1.000 1 2002 2002
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.010 1.000 1 2002 2002
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.010 1.000 1 2002 2002
dbSNP: rs104894809
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 2005 2005