GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Maturity onset diabetes mellitus in young ×
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: 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: 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: rs144723656
rs144723656 		0.925 0.080 7 44149794 stop gained G/A;C;T snv 9.5E-03
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 5 2000 2017
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: rs1562719705
rs1562719705 		0.925 0.080 7 44153361 missense variant G/A snv
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: rs762263694
rs762263694 		0.925 0.080 7 44153403 missense variant G/A snv 1.2E-05 2.8E-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 0
dbSNP: rs104894009
rs104894009 		0.882 0.120 7 44146587 missense variant C/G snv
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 1995 1995
dbSNP: rs1064793998
rs1064793998 		0.882 0.080 7 44153325 missense variant C/T snv
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 2005 2005
dbSNP: rs1255911887
rs1255911887 		0.925 0.080 7 44146584 missense variant C/T snv
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 1997 1997
dbSNP: rs1441649062
rs1441649062 		0.851 0.080 7 44149822 missense variant G/A 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 2014 2014
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: rs1554335761
rs1554335761 		0.925 0.080 7 44152396 missense variant C/T snv
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: rs193922317
rs193922317 		0.925 0.080 7 44149778 missense variant C/T snv
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: rs373418736
rs373418736 		0.925 0.080 7 44153306 missense variant C/T snv 2.0E-05 3.5E-05
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 2012 2012
dbSNP: rs587780346
rs587780346 		0.925 0.080 7 44149823 missense variant T/G snv
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 2012 2012
dbSNP: rs749877032
rs749877032 		0.925 0.080 7 44145551 missense variant T/C snv 4.2E-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 2016 2016
dbSNP: rs762922697
rs762922697 		1.000 0.080 7 44152333 missense variant C/T snv 1.0E-04 2.8E-05
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 2016 2016
dbSNP: rs764232985
rs764232985 		0.851 0.080 7 44153381 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 0.010 1.000 1 2012 2012