rs137852676, 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.
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
108 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.800 1.000 4 2006 2007
Hyperinsulinemic hypoglycemia, familial, 1
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
147 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 20 1996 2015
Hyperinsulinemic hypoglycemia, familial, 2
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
50 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 5 2004 2012