Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. 23486339

2013
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. 23000067

2012
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Glucose-6-phosphatase deficiency. 21599942

2011
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. 18449899

2008
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. 10748407

2000
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 GeneticVariation CLINVAR Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia. 10797430

2000
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. 9630072

1998
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 CausalMutation CLINVAR Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. 7668282

1995
dbSNP: rs80356484
rs80356484
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		T 0.700 GeneticVariation CLINVAR Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. 7668282

1995