rs1057517420, 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 17408518 splice acceptor variant C/G snv 7.0E-06 0.700 1.000 1 2013 2013
Hyperinsulinemic hypoglycemia, familial, 1
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
147 0.925 0.120 11 17408518 splice acceptor variant C/G snv 7.0E-06 0.700 1.000 1 2013 2013