Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204661
rs786204661
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
A 0.700 GeneticVariation CLINVAR Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. 20638881

2011