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: 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: 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: 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: 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: rs1131691416
rs1131691416 		1.000 0.080 7 44145194 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: rs1176659689
rs1176659689 		1.000 0.080 7 44152278 missense variant 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 0.700 0
dbSNP: rs1255911887
rs1255911887 		0.925 0.080 7 44146584 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: rs1286804191
rs1286804191 		0.925 0.080 7 44145212 missense variant G/A snv 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: rs1312678560
rs1312678560 		1.000 0.080 7 44146574 missense variant C/A;T 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 0
dbSNP: rs1338970607
rs1338970607 		1.000 0.080 7 44152305 missense variant A/G 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 0.700 0
dbSNP: rs1350717554
rs1350717554 		1.000 0.040 7 44145585 missense variant C/G;T snv
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1360415315
rs1360415315 		0.851 0.080 7 44149772 missense variant C/G;T snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1360415315
rs1360415315 		0.851 0.080 7 44149772 missense variant C/G;T snv 4.0E-06
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1360415315
rs1360415315 		0.851 0.080 7 44149772 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 0
dbSNP: rs1360415315
rs1360415315 		0.851 0.080 7 44149772 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 0.700 0
dbSNP: rs1375656631
rs1375656631 		1.000 0.080 7 44147738 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 0.700 0
dbSNP: rs1376620210
rs1376620210 		1.000 0.080 7 44145600 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: rs144723656
rs144723656 		0.925 0.080 7 44149794 stop gained G/A;C;T snv 9.5E-03
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: rs147065275
rs147065275 		1.000 0.080 7 44149790 missense variant C/T snv 1.9E-04 1.0E-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 0.700 0
dbSNP: rs148311934
rs148311934 		0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs148311934
rs148311934 		0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs148311934
rs148311934 		0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.700 0
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: rs1554334579
rs1554334579 		1.000 0.080 7 44145577 missense variant 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 0.700 0
dbSNP: rs1554334886
rs1554334886 		1.000 0.080 7 44146541 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 0