Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516546
rs1057516546
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		TC 0.700 GeneticVariation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007