rs104894815, GATA1

N. diseases: 6
Source: BEFREE ×
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.
Anemia
CUI: C0002871
Disease: Anemia
79 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
69 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
Anemia of inadequate production
CUI: C0678199
Disease: Anemia of inadequate production
2 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
19 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
17 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
23 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002