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: rs146175795
rs146175795 		2 27498276 missense variant G/A;T snv 2.7E-03
CUI: C3150714
Disease: FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 		0.700 1.000 1 2012 2012
dbSNP: rs57634090
rs57634090 		2 27508873 intron variant T/-;TT;TTT;TTTT;TTTTTT delins
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs704790
rs704790 		2 27523543 3 prime UTR variant G/A snv 4.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs780095
rs780095 		2 27518238 intron variant A/G snv 0.60
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2017 2017
dbSNP: rs780095
rs780095 		2 27518238 intron variant A/G snv 0.60
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs780096
rs780096 		2 27518205 intron variant C/A;G snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs780096
rs780096 		2 27518205 intron variant C/A;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.770 1.000 9 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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.760 1.000 7 2014 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: 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: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 4 2016 2019
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: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.040 1.000 4 2008 2015
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.040 1.000 4 2012 2018
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: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.030 1.000 3 2008 2013
dbSNP: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2011 2016