Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051877
rs796051877
GAA
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015