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.
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
CUI: C3277076
Disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
2 0.851 0.080 17 4933119 missense variant C/T snv 0.800 1.000 1 2001 2001
Bernard-Soulier Syndrome
CUI: C0005129
Disease: Bernard-Soulier Syndrome
23 0.851 0.080 17 4933119 missense variant C/T snv 0.700 1.000 6 1992 1999
BERNARD-SOULIER SYNDROME, TYPE A1
CUI: C3278148
Disease: BERNARD-SOULIER SYNDROME, TYPE A1
4 0.851 0.080 17 4933119 missense variant C/T snv 0.700 0
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.851 0.080 17 4933119 missense variant C/T snv 0.010 1.000 1 2012 2012
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.851 0.080 17 4933119 missense variant C/T snv 0.010 1.000 1 2012 2012