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: 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: 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: rs1167124132
rs1167124132 		1.000 0.080 7 44145576 missense variant G/A 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 1.000 20 1992 2014
dbSNP: rs1554335135
rs1554335135 		1.000 0.080 7 44147744 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 0.700 1.000 20 1992 2014
dbSNP: rs1554335566
rs1554335566 		1.000 0.080 7 44150961 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 1.000 20 1992 2014
dbSNP: rs1554335761
rs1554335761 		0.925 0.080 7 44152396 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 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: 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: rs267601516
rs267601516 		1.000 0.080 7 44153379 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 1.000 20 1992 2014
dbSNP: rs587780344
rs587780344 		1.000 0.080 7 44150025 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 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: 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: rs1064793998
rs1064793998 		0.882 0.080 7 44153325 missense variant C/T snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.720 1.000 8 1998 2016
dbSNP: rs1064793998
rs1064793998 		0.882 0.080 7 44153325 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 1.000 8 1998 2016
dbSNP: rs193922331
rs193922331 		0.882 0.080 7 44147726 missense variant A/G snv 7.0E-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 1.000 7 2002 2015
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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.050 1.000 5 2013 2017
dbSNP: rs1057524905
rs1057524905 		0.882 0.080 7 44147834 splice acceptor variant C/T snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 2003 2009
dbSNP: rs1057524905
rs1057524905 		0.882 0.080 7 44147834 splice acceptor 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 1.000 4 2003 2009
dbSNP: rs1057524905
rs1057524905 		0.882 0.080 7 44147834 splice acceptor variant C/T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 2003 2009
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