rs193922405, ABCC8

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, 1
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
147 0.925 0.160 11 17394360 missense variant C/A;T snv 0.700 0
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.925 0.160 11 17394360 missense variant C/A;T snv 0.010 1.000 1 2011 2011