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.
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2002 2002
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2002 2002
Erythroid hyperplasia
CUI: C0014800
Disease: Erythroid hyperplasia
3 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 1993 1993
Microcytic hypochromic anemia (disorder)
3 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 1993 1993
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 1993 1993