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: rs2268575
rs2268575 		7 44149675 intron variant T/C snv 0.18
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2019
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: rs10259649
rs10259649 		7 44180106 intron variant T/C snv 0.20
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2070971
rs2070971 		7 44157984 intron variant G/T snv 0.23
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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: rs2268575
rs2268575 		7 44149675 intron variant T/C snv 0.18
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
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: rs2971671
rs2971671 		7 44171738 intron variant T/C snv 0.22
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs2971671
rs2971671 		7 44171738 intron variant T/C snv 0.22
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2971672
rs2971672 		7 44166307 intron variant A/C snv 0.44
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6975024
rs6975024 		7 44192287 intron variant T/C snv 0.14
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs6975024
rs6975024 		7 44192287 intron variant T/C snv 0.14
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6975024
rs6975024 		7 44192287 intron variant T/C snv 0.14
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs6975024
rs6975024 		7 44192287 intron variant T/C snv 0.14
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2018 2018
dbSNP: rs770730728
rs770730728 		7 44147757 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587780343
rs587780343 		7 44145638 missense variant C/A;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs587780347
rs587780347 		7 44147807 missense variant C/T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs104894012
rs104894012 		1.000 0.040 7 44145171 missense variant C/T snv
CUI: C1865290
Disease: Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 3 		Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs758737171
rs758737171 		0.925 0.040 7 44145210 missense variant C/T snv 2.9E-05 1.4E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 2004 2016
dbSNP: rs104894006
rs104894006 		0.925 0.040 7 44149992 stop gained G/A;T snv 1.2E-05
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1208845035
rs1208845035 		1.000 0.040 7 44145270 missense variant G/A snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs2908290
rs2908290 		1.000 0.040 7 44176538 intron variant G/A snv 0.43
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2019 2019