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: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A 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: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A 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 2000 2000
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C4016507
Disease: THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA 		0.700 0
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C0002871
Disease: Anemia
Anemia 		0.020 1.000 2 2000 2012
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 1.000 2 2000 2012
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.010 1.000 1 2002 2002
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 1.000 1 2002 2002
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		0.010 1.000 1 2002 2002
dbSNP: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.010 1.000 1 2002 2002