rs28936371, 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 17394334 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 20 1996 2015
Hyperinsulinemic hypoglycemia, familial, 2
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
50 0.925 0.120 11 17394334 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 6 1976 2011