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
CUI: C0040034
Disease: Thrombocytopenia
110 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 1.000 1 2019 2019
Bernard-Soulier Syndrome, Type B
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
2 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 0
Increased mean platelet volume
CUI: C1096367
Disease: Increased mean platelet volume
2 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 0
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 0