GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Neonatal diabetes mellitus ×
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: rs193929373
rs193929373 		0.882 0.120 7 44147723 missense variant C/T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs193929375
rs193929375 		0.882 0.120 7 44145560 missense variant C/A snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005