rs786204542, ABCC8

N. diseases: 1
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, 2
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
50 1.000 0.120 11 17406924 frameshift variant GGT/CAGTTCCTGGCTG delins 0.700 1.000 1 2007 2007