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: 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: rs1557020001
rs1557020001
GATA1
0.925 0.080 X 48791127 frameshift variant G/- delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.700 1.000 6 1996 2014
dbSNP: rs1557020001
rs1557020001
GATA1
0.925 0.080 X 48791127 frameshift variant G/- delins
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.700 1.000 6 1996 2014
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: 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: 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: rs1569499366
rs1569499366
GATA1
0.925 0.080 X 48791330 splice donor variant G/C snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.700 1.000 4 2006 2014
dbSNP: rs1569499366
rs1569499366
GATA1
0.925 0.080 X 48791330 splice donor variant G/C 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 2006 2014
dbSNP: rs387907207
rs387907207
GATA1
0.925 0.200 X 48792370 missense variant C/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 4 1986 2013
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: rs137852312
rs137852312
GATA1
0.882 0.120 X 48792346 missense variant GG/TC mnv
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		0.700 1.000 2 2001 2007
dbSNP: rs587776454
rs587776454
GATA1
0.851 0.160 X 48792346 missense variant G/A;C snv
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		0.700 1.000 2 2005 2008
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: 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: 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: rs587776451
rs587776451
GATA1
0.925 0.120 X 48791111 start lost T/C 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 2014 2014
dbSNP: rs587776452
rs587776452
GATA1
0.925 0.120 X 48791329 missense variant G/C 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 2012 2012
dbSNP: rs587776453
rs587776453
GATA1
0.925 0.120 X 48791329 splice donor variant G/- delins
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		0.700 1.000 1 2012 2012
dbSNP: rs587776455
rs587776455
GATA1
1.000 0.120 X 48793916 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 2006 2006
dbSNP: rs587776456
rs587776456
GATA1
1.000 0.120 X 48794162 stop lost T/C 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 2013 2013
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: 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: 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
dbSNP: rs137852312
rs137852312
GATA1
0.882 0.120 X 48792346 missense variant GG/TC mnv
CUI: C4016508
Disease: THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 0
dbSNP: rs1557020021
rs1557020021
GATA1
0.925 0.080 X 48791198 stop gained C/G snv
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.700 0