Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516826
rs1057516826
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		CCGATA 0.700 GeneticVariation CLINVAR A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease). 24976573

2014