GCKR, glucokinase regulator, 2646

N. diseases: 136; N. variants: 23
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: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.820 0.750 4 2010 2016
dbSNP: rs780094
rs780094
0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.730 1.000 4 2010 2017
dbSNP: rs780093
rs780093
0.763 0.240 2 27519736 intron variant T/C snv 0.68
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017