Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368438393
rs368438393
GAA
C 0.800 GeneticVariation CLINVAR The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. 12897283

2003
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. 12923862

2003
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). 11738358

2002
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 11071489

2000
dbSNP: rs368438393
rs368438393
GAA
A 0.800 GeneticVariation CLINVAR Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. 9535769

1998
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. 10737124

1998
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. 9521422

1998
dbSNP: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. 9535769

1998
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. 8834250

1996
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Identification of a de novo point mutation resulting in infantile form of Pompe's disease. 7695647

1995
dbSNP: rs368438393
rs368438393
GAA
C 0.800 GeneticVariation CLINVAR Identification of a de novo point mutation resulting in infantile form of Pompe's disease. 7695647

1995
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. 8401535

1993
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. 1684505

1991