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 0.925 0.080 2 233760961 missense variant T/G snv 5.9E-04 3.6E-04 0.700 1.000 16 1993 2013
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
38 0.925 0.080 2 233760961 missense variant T/G snv 5.9E-04 3.6E-04 0.700 1.000 3 2000 2015