GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Monogenic diabetes ×
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: rs764232985
rs764232985 		0.851 0.080 7 44153381 missense variant C/G;T snv 4.0E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 6 2002 2014
dbSNP: rs1057524900
rs1057524900 		0.925 0.080 7 44145173 missense variant G/A;T snv 4.2E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 2003 2012
dbSNP: rs1057524905
rs1057524905 		0.882 0.080 7 44147834 splice acceptor variant C/T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 2003 2009
dbSNP: rs1057524901
rs1057524901 		0.925 0.080 7 44145190 frameshift variant G/- del
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2003 2009
dbSNP: rs1057524902
rs1057524902 		0.882 0.080 7 44145495 splice donor variant A/T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2003 2009
dbSNP: rs1057524903
rs1057524903 		0.925 0.080 7 44146466 missense variant T/C snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2006 2011
dbSNP: rs1057524904
rs1057524904 		0.882 0.080 7 44147765 missense variant G/A snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2007 2009
dbSNP: rs1057524906
rs1057524906 		0.925 0.080 7 44153387 missense variant A/G snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2009 2009