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.
Hyperinsulinemic hypoglycemia, familial, 3
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
11 0.925 0.120 7 44149798 missense variant T/C snv 0.800 1.000 8 1998 2017
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.925 0.120 7 44149798 missense variant T/C snv 0.010 1.000 1 2011 2011