rs1057516317, 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.
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05 0.700 1.000 5 2006 2016
Hyperinsulinemic hypoglycemia, familial, 1
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
147 0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05 0.700 1.000 3 2004 2008