rs587776452, 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 0.925 0.120 X 48791329 missense variant G/C snv 0.700 1.000 1 2012 2012
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
CUI: C3550856
Disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
3 0.925 0.120 X 48791329 missense variant G/C snv 0.700 0