GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894015
rs104894015
0.925 0.120 7 44149798 missense variant T/C snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011