Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs564758226
rs564758226
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 GeneticVariation BEFREE The deleterious effect of c.510C>T was also found in muscle cells, the main target cells in Pompe disease. 30922962

2019