Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families. 25827695

2015
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 GeneticVariation CLINVAR Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. 23430490

2013
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. 23430490

2013
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. 22089644

2012
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 GeneticVariation CLINVAR Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. 22089644

2012
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 20648714

2010
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 GeneticVariation CLINVAR Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 20648714

2010
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. 11924557

2002
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 GeneticVariation CLINVAR Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. 11924557

2002
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 10655153

2000
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 10655153

2000
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 CausalMutation CLINVAR A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 9490286

1998
dbSNP: rs369973784
rs369973784
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		G 0.700 GeneticVariation CLINVAR A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 9490286

1998