rs796051877, GAA

N. diseases: 11
Disease: Cardiomegaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomegaly
CUI: C0018800
Disease: Cardiomegaly
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