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: rs10259649
rs10259649 		7 44180106 intron variant T/C snv 0.20
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1036483919
rs1036483919 		0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1036483919
rs1036483919 		0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1036483919
rs1036483919 		0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1036483919
rs1036483919 		0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
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: rs104894006
rs104894006 		0.925 0.040 7 44149992 stop gained G/A;T snv 1.2E-05
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs104894006
rs104894006 		0.925 0.040 7 44149992 stop gained G/A;T snv 1.2E-05
CUI: C4016117
Disease: DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET
DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET 		0.700 0
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: rs104894008
rs104894008 		0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs104894008
rs104894008 		0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
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: rs104894009
rs104894009 		0.882 0.120 7 44146587 missense variant C/G snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs104894009
rs104894009 		0.882 0.120 7 44146587 missense variant C/G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
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: rs104894011
rs104894011 		1.000 0.080 7 44147720 stop gained C/A;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 0.700 0
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: rs104894014
rs104894014 		0.925 0.080 7 44145167 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs104894014
rs104894014 		0.925 0.080 7 44145167 missense variant G/A snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
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: rs104894015
rs104894015 		0.925 0.120 7 44149798 missense variant T/C snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
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: rs1057521092
rs1057521092 		1.000 0.080 7 44145651 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 0.700 0
dbSNP: rs1057524900
rs1057524900 		0.925 0.080 7 44145173 missense variant G/A;T snv 4.2E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2012