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: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 1.000 17 2007 2018
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.830 1.000 6 2010 2018
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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.810 1.000 3 2010 2016
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 23 2008 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 10 2010 2019
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 10 2007 2019
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 7 2010 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.800 1.000 6 2013 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 6 2010 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 6 2010 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 6 2009 2019
dbSNP: rs780093
rs780093 		0.763 0.240 2 27519736 intron variant T/C snv 0.68
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 6 2011 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.800 1.000 5 2010 2018
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 5 2012 2019
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 5 2011 2019
dbSNP: rs780092
rs780092 		0.827 0.160 2 27520287 intron variant A/G snv 0.18
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2011 2019
dbSNP: rs780093
rs780093 		0.763 0.240 2 27519736 intron variant T/C snv 0.68
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 3 2011 2018
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2008 2019
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.800 1.000 3 2011 2018
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 3 2008 2019