Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907938
rs121907938
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: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Identification of a de novo point mutation resulting in infantile form of Pompe's disease. 7695647

1995
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. 8401535

1993
dbSNP: rs121907938
rs121907938
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: rs121907938
rs121907938
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