Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801175
rs1801175
G6PC
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		T 0.710 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959

2004
dbSNP: rs1801175
rs1801175
G6PC
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		T 0.710 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 8211187

1993