Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 GeneticVariation CLINVAR Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. 25998610

2015
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 CausalMutation CLINVAR Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. 25998610

2015
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 CausalMutation CLINVAR We identified six mutant alleles among the three GSD II patients: c.875A>G, c.1156C>T, c.1316T>A, c.1857C>G, and c2407_2412del7. c.1156C>T (Q386*) is a novel mutation. 23884227

2013
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 GeneticVariation CLINVAR We identified six mutant alleles among the three GSD II patients: c.875A>G, c.1156C>T, c.1316T>A, c.1857C>G, and c2407_2412del7. c.1156C>T (Q386*) is a novel mutation. 23884227

2013
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843

2009
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 CausalMutation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 GeneticVariation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 CausalMutation CLINVAR Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 14695532

2004
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 GeneticVariation CLINVAR Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 14695532

2004
dbSNP: rs1057516600
rs1057516600
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.800 GeneticVariation CLINVAR [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)]. 10528311

1999