Source: CURATED

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: rs104894816
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G 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: rs104894816
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		0.700 1.000 3 2001 2007
dbSNP: rs104894816
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs104894816
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv
CUI: C4016508
Disease: THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 0