rs28936370, 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 0.120 11 17396980 missense variant C/G;T snv 8.0E-06; 2.0E-05 0.800 1.000 20 1996 2015
Hypoglycemia, leucine-induced
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
6 0.925 0.120 11 17396980 missense variant C/G;T snv 8.0E-06; 2.0E-05 0.800 1.000 1 2004 2004