Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761317813
rs761317813
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		TC 0.700 CausalMutation CLINVAR Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. 21484825

2011
dbSNP: rs761317813
rs761317813
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		TC 0.700 CausalMutation CLINVAR Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. 16917947

2006
dbSNP: rs761317813
rs761317813
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		TC 0.700 CausalMutation CLINVAR The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online. 10206684

1998
dbSNP: rs761317813
rs761317813
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR