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: rs4607517
rs4607517 		0.882 0.080 7 44196069 intron variant G/A;C snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 7 2009 2019
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: rs1799884
rs1799884 		1.000 0.080 7 44189469 intron variant C/T snv 0.17
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 3 2011 2019
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: rs730497
rs730497 		0.882 0.160 7 44184122 intron variant G/A snv 0.17
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 2 2015 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: rs1441649062
rs1441649062 		0.851 0.080 7 44149822 missense variant G/A snv 4.0E-06
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		0.010 1.000 1 2014 2014
dbSNP: rs1799884
rs1799884 		1.000 0.080 7 44189469 intron variant C/T snv 0.17
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs1799884
rs1799884 		1.000 0.080 7 44189469 intron variant C/T snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011
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: rs2908289
rs2908289 		1.000 0.080 7 44184343 intron variant G/A snv 0.20
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs2908289
rs2908289 		1.000 0.080 7 44184343 intron variant G/A snv 0.20
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
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
dbSNP: rs2908290
rs2908290 		1.000 0.040 7 44176538 intron variant G/A snv 0.43
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
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: rs3757840
rs3757840 		1.000 0.040 7 44191617 intron variant T/C;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4607517
rs4607517 		0.882 0.080 7 44196069 intron variant G/A;C snv
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012