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: rs1554334433
rs1554334433 		1.000 0.040 7 44145170 protein altering variant -/CCG delins
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922253
rs193922253 		1.000 0.080 7 44146478 frameshift variant -/TT ins 4.1E-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 0.700 0
dbSNP: rs1554335752
rs1554335752 		1.000 0.080 7 44152339 frameshift variant A/- del
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: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2018 2018
dbSNP: rs193921400
rs193921400 		1.000 0.080 7 44147755 missense variant A/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 0.700 0
dbSNP: rs193922292
rs193922292 		1.000 0.080 7 44152312 missense variant A/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 0.700 0
dbSNP: rs193922266
rs193922266 		1.000 0.080 7 44145608 missense variant A/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: rs193922325
rs193922325 		1.000 0.080 7 44153435 missense variant A/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: rs193929376
rs193929376 		1.000 0.080 7 44146461 splice donor variant A/C;T snv 4.1E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
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: 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: 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: rs193922331
rs193922331 		0.882 0.080 7 44147726 missense variant A/G snv 7.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 3 2002 2012
dbSNP: rs193922331
rs193922331 		0.882 0.080 7 44147726 missense variant A/G snv 7.0E-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 0.700 1.000 3 2002 2012
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: rs1057524906
rs1057524906 		0.925 0.080 7 44153387 missense variant A/G snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1057524906
rs1057524906 		0.925 0.080 7 44153387 missense variant A/G snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1444739794
rs1444739794 		0.925 0.080 7 44153324 missense variant A/G 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 0.010 1.000 1 1998 1998
dbSNP: rs1444739794
rs1444739794 		0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 1998 1998