Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516928
rs1057516928
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study. 27183828

2016
dbSNP: rs1057516928
rs1057516928
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. 21926084

2011