rs1801175, G6PC

N. diseases: 4
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen Storage Disease
CUI: C0017919
Disease: Glycogen Storage Disease
0.710 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959 2004
Glycogen Storage Disease
CUI: C0017919
Disease: Glycogen Storage Disease
0.710 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 8211187 1993