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.
Crigler Najjar syndrome, type 2
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
27 0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05 0.700 1.000 16 1993 2013
Gilbert Disease (disorder)
CUI: C0017551
Disease: Gilbert Disease (disorder)
29 0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05 0.700 1.000 5 1995 2007
Neonatal unconjugated hyperbilirubinemia
CUI: C0559506
Disease: Neonatal unconjugated hyperbilirubinemia
2 0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2013 2013