Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516520
rs1057516520
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. 20817528

2010
dbSNP: rs1057516520
rs1057516520
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Molecular diagnosis of German patients with late-onset glycogen storage disease type II. 18607768

2008
dbSNP: rs1057516520
rs1057516520
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. 15121988

2004