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: rs80356655
rs80356655 		0.925 0.080 7 44147830 missense variant G/A snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2001 2014
dbSNP: rs3757840
rs3757840 		1.000 0.040 7 44191617 intron variant T/C;G snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs4607517
rs4607517 		0.882 0.080 7 44196069 intron variant G/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.800 1.000 1 2012 2012
dbSNP: rs193922317
rs193922317 		0.925 0.080 7 44149778 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 0
dbSNP: rs193929375
rs193929375 		0.882 0.120 7 44145560 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 0
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: rs193922287
rs193922287 		0.925 0.080 7 44153334 missense variant G/A 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 0.710 1.000 1 2013 2013
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: rs1441649062
rs1441649062 		0.851 0.080 7 44149822 missense variant G/A 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 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: 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: rs373418736
rs373418736 		0.925 0.080 7 44153306 missense variant C/T snv 2.0E-05 3.5E-05
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: rs751279776
rs751279776 		0.925 0.080 7 44149986 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 1.000 20 1992 2014
dbSNP: rs759421263
rs759421263 		1.000 0.080 7 44147771 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 1.000 20 1992 2014
dbSNP: rs764232985
rs764232985 		0.851 0.080 7 44153381 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 1.000 20 1992 2014
dbSNP: rs1085307455
rs1085307455 		0.925 0.080 7 44149977 missense variant G/A;T snv 8.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 12 2000 2012
dbSNP: rs148311934
rs148311934 		0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
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 11 1997 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: rs764232985
rs764232985 		0.851 0.080 7 44153381 missense variant C/G;T snv 4.0E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 6 2002 2014
dbSNP: rs764232985
rs764232985 		0.851 0.080 7 44153381 missense variant C/G;T snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 6 2002 2014
dbSNP: rs1057524900
rs1057524900 		0.925 0.080 7 44145173 missense variant G/A;T snv 4.2E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2012