rs1554906133, GLUD1

N. diseases: 2
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, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
11 0.925 0.120 10 87061018 missense variant T/C snv 0.700 1.000 4 1998 2001
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.925 0.120 10 87061018 missense variant T/C snv 0.010 1.000 1 2002 2002