rs587776456, GATA1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
12 1.000 0.120 X 48794162 stop lost T/C snv 0.700 1.000 1 2013 2013
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 1.000 0.120 X 48794162 stop lost T/C snv 0.700 0