rs72559716, ABCC8

N. diseases: 3
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 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.800 1.000 28 1996 2018
Hyperinsulinemic hypoglycemia, familial, 2
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
50 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.700 1.000 8 2000 2010
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.700 1.000 7 2005 2013