Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204614
rs786204614
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007
dbSNP: rs786204614
rs786204614
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report. 17041744

2006
dbSNP: rs786204614
rs786204614
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. 8435067

1993