Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517165
rs1057517165
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.700 CausalMutation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs1057517165
rs1057517165
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.700 CausalMutation CLINVAR Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. 17056254

2007