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: rs1799884
rs1799884 		1.000 0.080 7 44189469 intron variant C/T snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.830 0.750 4 2008 2013
dbSNP: rs777870079
rs777870079 		1.000 0.080 7 44145602 stop gained G/A;T snv 4.3E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 21 1992 2014
dbSNP: rs1085307455
rs1085307455 		0.925 0.080 7 44149977 missense variant G/A;T snv 8.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 31 1992 2014
dbSNP: rs148311934
rs148311934 		0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 22 1992 2014
dbSNP: rs193922264
rs193922264 		1.000 0.080 7 44145620 missense variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 22 1992 2018
dbSNP: rs104894005
rs104894005 		1.000 0.080 7 44147678 stop gained C/A;G;T snv 4.0E-06; 1.1E-04
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs104894008
rs104894008 		0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs104894009
rs104894009 		0.882 0.120 7 44146587 missense variant C/G snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs104894010
rs104894010 		1.000 0.080 7 44151048 missense variant A/G snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs104894016
rs104894016 		1.000 0.080 7 44145618 missense variant C/G;T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs193922272
rs193922272 		1.000 0.080 7 44145510 missense variant T/C snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs193922289
rs193922289 		0.882 0.080 7 44152420 missense variant C/T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs193922297
rs193922297 		1.000 0.080 7 44150990 missense variant A/G;T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs587780345
rs587780345 		0.851 0.080 7 44150004 missense variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs762263694
rs762263694 		0.925 0.080 7 44153403 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs769268803
rs769268803 		0.851 0.080 7 44147747 missense variant C/G;T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs80356654
rs80356654 		0.925 0.080 7 44149810 missense variant A/G;T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs80356655
rs80356655 		0.925 0.080 7 44147830 missense variant G/A snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2014
dbSNP: rs104894012
rs104894012 		1.000 0.040 7 44145171 missense variant C/T snv
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs104894014
rs104894014 		0.925 0.080 7 44145167 missense variant G/A snv
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs104894015
rs104894015 		0.925 0.120 7 44149798 missense variant T/C snv
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs4607517
rs4607517 		0.882 0.080 7 44196069 intron variant G/A;C snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 7 2009 2019
dbSNP: rs1799884
rs1799884 		1.000 0.080 7 44189469 intron variant C/T snv 0.17
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 3 2011 2019
dbSNP: rs2268575
rs2268575 		7 44149675 intron variant T/C snv 0.18
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2019
dbSNP: rs80356654
rs80356654 		0.925 0.080 7 44149810 missense variant A/G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2001 2014