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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 CausalMutation CLINVAR We report a previously undescribed association of c.1437G>A intron 9 substitution on the GAA gene with severe infantile-onset Pompe disease in a deceased proband and carrier status in four of five surviving family members. 26160551

2015