Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767409395
rs767409395
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 CausalMutation CLINVAR Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 24107549

2013
dbSNP: rs767409395
rs767409395
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 CausalMutation CLINVAR A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. 22676651

2012
dbSNP: rs767409395
rs767409395
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 CausalMutation CLINVAR Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. 17723315

2007
dbSNP: rs767409395
rs767409395
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 CausalMutation CLINVAR Glycogenosis type II (acid maltase deficiency). 7603530

1995