GCK, glucokinase, 2645

N. diseases: 17; N. variants: 171
Disease: Diabetes mellitus autosomal dominant type II (disorder) ×
Source: CURATED ×
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: 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: 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: 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
dbSNP: rs1554335391
rs1554335391 		1.000 0.080 7 44149758 splice region variant CCAC/- delins
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: rs1554335612
rs1554335612 		1.000 0.080 7 44151068 missense variant T/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 0
dbSNP: rs1554335616
rs1554335616 		1.000 0.080 7 44151075 missense variant G/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: 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: rs1554335954
rs1554335954 		1.000 0.080 7 44153411 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 0.700 0
dbSNP: rs1562719705
rs1562719705 		0.925 0.080 7 44153361 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 0
dbSNP: rs193921338
rs193921338 		1.000 0.080 7 44145590 missense variant G/A;T snv 4.4E-06; 4.4E-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: rs193921340
rs193921340 		1.000 0.080 7 44145581 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 0.700 0
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: rs193922252
rs193922252 		1.000 0.080 7 44146479 missense variant CG/TT mnv
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