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: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 25308557

2015
dbSNP: rs1801175
rs1801175
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. 7744838

1995