Gene: AGL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606640
rs267606640
AGL
A 0.710 GeneticVariation CLINVAR The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia. 23207808

2013
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia. 23207808

2013
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. 22089644

2012
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR Glycogen storage disease type III in the Irish population. 20490926

2010
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. 19834502

2009
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. 18924225

2008
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR Molecular characterization of Egyptian patients with glycogen storage disease type IIIa. 16189622

2005
dbSNP: rs267606640
rs267606640
AGL
A 0.710 CausalMutation CLINVAR Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL. 12442284

2002
dbSNP: rs267606640
rs267606640
AGL
A 0.710 GeneticVariation CLINVAR Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL. 12442284

2002
dbSNP: rs113994130
rs113994130
AGL
T 0.700 CausalMutation CLINVAR Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China. 29614965

2018
dbSNP: rs12118058
rs12118058
AGL
T 0.700 CausalMutation CLINVAR Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. 29374762

2018
dbSNP: rs1057516994
rs1057516994
AGL
T 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs1293077915
rs1293077915
AGL
G 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs1443902661
rs1443902661
AGL
TG 0.700 GeneticVariation CLINVAR Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. 27106217

2016
dbSNP: rs1553185905
rs1553185905
AGL
G 0.700 CausalMutation CLINVAR A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. 26885414

2016
dbSNP: rs1553186489
rs1553186489
AGL
A 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs1553186577
rs1553186577
AGL
T 0.700 GeneticVariation CLINVAR Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. 27106217

2016
dbSNP: rs1553187957
rs1553187957
AGL
A 0.700 CausalMutation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs1553188849
rs1553188849
AGL
T 0.700 GeneticVariation CLINVAR A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. 26885414

2016
dbSNP: rs1553193463
rs1553193463
AGL
A 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs531425980
rs531425980
AGL
T 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs531425980
rs531425980
AGL
T 0.700 CausalMutation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs755747010
rs755747010
AGL
T 0.700 CausalMutation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs766536350
rs766536350
AGL
T 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs771853367
rs771853367
AGL
T 0.700 CausalMutation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016