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: 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: 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: 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: rs1057524902
rs1057524902 		0.882 0.080 7 44145495 splice donor variant 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 1.000 3 2003 2009
dbSNP: rs1057524904
rs1057524904 		0.882 0.080 7 44147765 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 3 2007 2009
dbSNP: rs1064794268
rs1064794268 		0.925 0.080 7 44153396 missense variant T/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 3 2000 2014
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: rs1562715574
rs1562715574 		0.925 0.080 7 44147795 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 0.700 1.000 2 2008 2015
dbSNP: rs193922265
rs193922265 		1.000 0.080 7 44145614 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 1.000 2 2009 2019
dbSNP: rs556581174
rs556581174 		0.925 0.080 7 44145637 stop gained G/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 1.000 1 2009 2009
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