Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1055945806
rs1055945806
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs1055945806
rs1055945806
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008