GCKR, glucokinase regulator, 2646

N. diseases: 136; N. variants: 23
Disease: Gout ×
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: rs1260326
rs1260326 		0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 6 2010 2019
dbSNP: rs780094
rs780094 		0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs780093
rs780093 		0.763 0.240 2 27519736 intron variant T/C snv 0.68
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs11681351
rs11681351 		0.925 0.120 2 27520556 intron variant G/A snv 0.36
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1260320
rs1260320 		0.925 0.120 2 27499549 intron variant G/A snv 0.45
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs2293571
rs2293571 		0.882 0.120 2 27506613 non coding transcript exon variant G/A snv 0.40 0.39
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs2293572
rs2293572 		0.925 0.120 2 27505910 intron variant C/G snv 0.39
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs4425043
rs4425043 		0.882 0.120 2 27510585 intron variant G/A;T snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs813592
rs813592 		0.925 0.120 2 27499104 intron variant T/C snv 0.42 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs3817588
rs3817588 		0.882 0.160 2 27508345 intron variant T/C snv 0.14
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs780090
rs780090 		0.925 0.120 2 27495607 upstream gene variant T/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs780092
rs780092 		0.827 0.160 2 27520287 intron variant A/G snv 0.18
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs814295
rs814295 		0.925 0.120 2 27520348 intron variant A/G snv 0.18
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs8179252
rs8179252 		0.882 0.120 2 27523965 downstream gene variant A/C snv 0.37
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013