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: rs104894012
rs104894012
1.000 0.040 7 44145171 missense variant C/T snv
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs104894014
rs104894014
0.925 0.080 7 44145167 missense variant G/A snv
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs104894015
rs104894015
0.925 0.120 7 44149798 missense variant T/C snv
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2017
dbSNP: rs1350717554
rs1350717554
1.000 0.040 7 44145585 missense variant C/G;T snv
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1360415315
rs1360415315
0.851 0.080 7 44149772 missense variant C/G;T snv 4.0E-06
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs148311934
rs148311934
0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554334433
rs1554334433
1.000 0.040 7 44145170 protein altering variant -/CCG delins
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922283
rs193922283
0.851 0.080 7 44145176 missense variant G/A snv
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587780345
rs587780345
0.851 0.080 7 44150004 missense variant C/T snv
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs758737171
rs758737171
0.925 0.040 7 44145210 missense variant C/T snv 2.9E-05 1.4E-05
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs769268803
rs769268803
0.851 0.080 7 44147747 missense variant C/G;T snv 4.0E-06
Hyperinsulinemic hypoglycemia, familial, 3
Nutritional and Metabolic Diseases 0.700 0