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: rs2971669
rs2971669 		7 44192179 intron variant C/T snv 0.30
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2018 2019
dbSNP: rs2070971
rs2070971 		7 44157984 intron variant G/T snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2908296
rs2908296 		7 44153863 intron variant G/T snv 0.21
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
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: rs730497
rs730497 		0.882 0.160 7 44184122 intron variant G/A snv 0.17
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894015
rs104894015 		0.925 0.120 7 44149798 missense variant T/C snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2908290
rs2908290 		1.000 0.040 7 44176538 intron variant G/A snv 0.43
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1036483919
rs1036483919 		0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs4607517
rs4607517 		0.882 0.080 7 44196069 intron variant G/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2010 2016
dbSNP: rs104894014
rs104894014 		0.925 0.080 7 44145167 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1174670182
rs1174670182 		0.925 0.080 7 44145616 synonymous variant A/T snv 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1444739794
rs1444739794 		0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 1998 1998
dbSNP: rs193929373
rs193929373 		0.882 0.120 7 44147723 missense variant C/T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs556436603
rs556436603 		0.925 0.080 7 44147690 missense variant G/A snv 1.2E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs749877032
rs749877032 		0.925 0.080 7 44145551 missense variant T/C snv 4.2E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs867232360
rs867232360 		1.000 0.040 7 44145552 missense variant C/T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1036483919
rs1036483919 		0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs4607517
rs4607517 		0.882 0.080 7 44196069 intron variant G/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2010 2016
dbSNP: rs104894014
rs104894014 		0.925 0.080 7 44145167 missense variant G/A snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1174670182
rs1174670182 		0.925 0.080 7 44145616 synonymous variant A/T snv 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1255911887
rs1255911887 		0.925 0.080 7 44146584 missense variant C/T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1444739794
rs1444739794 		0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 1998 1998
dbSNP: rs193929373
rs193929373 		0.882 0.120 7 44147723 missense variant C/T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs556436603
rs556436603 		0.925 0.080 7 44147690 missense variant G/A snv 1.2E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs749877032
rs749877032 		0.925 0.080 7 44145551 missense variant T/C snv 4.2E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016