Gene: G6PC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373345919
rs373345919
G6PC
T 0.710 CausalMutation CLINVAR Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 23046672

2013
dbSNP: rs1057517008
rs1057517008
G6PC
C 0.710 GeneticVariation CLINVAR Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. 15542400

2004
dbSNP: rs1057517008
rs1057517008
G6PC
C 0.710 CausalMutation CLINVAR Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. 15542400

2004
dbSNP: rs373345919
rs373345919
G6PC
T 0.710 CausalMutation CLINVAR Hydropericardium causing sudden infant death in glycogenosis type I: osmotic injury due to percutaneous silastic catheterization. 15455297

2004
dbSNP: rs1057517008
rs1057517008
G6PC
C 0.710 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs373345919
rs373345919
G6PC
T 0.710 CausalMutation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs1057517008
rs1057517008
G6PC
C 0.710 GeneticVariation CLINVAR Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. 11058903

2000
dbSNP: rs373345919
rs373345919
G6PC
T 0.710 CausalMutation CLINVAR Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia. 10797430

2000
dbSNP: rs373345919
rs373345919
G6PC
T 0.710 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: rs373345919
rs373345919
G6PC
T 0.710 CausalMutation CLINVAR Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. 11058903

2000
dbSNP: rs1057517008
rs1057517008
G6PC
C 0.710 CausalMutation CLINVAR Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online. 10447271

1999
dbSNP: rs1057517008
rs1057517008
G6PC
C 0.710 GeneticVariation CLINVAR Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online. 10447271

1999
dbSNP: rs373345919
rs373345919
G6PC
T 0.710 CausalMutation CLINVAR Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online. 10094563

1999
dbSNP: rs1189630738
rs1189630738
G6PC
T 0.700 GeneticVariation CLINVAR Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 28397058

2017
dbSNP: rs748363083
rs748363083
G6PC
A 0.700 CausalMutation CLINVAR Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. 28360385

2017
dbSNP: rs80356479
rs80356479
G6PC
T 0.700 CausalMutation CLINVAR Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 28397058

2017
dbSNP: rs80356483
rs80356483
G6PC
T 0.700 CausalMutation CLINVAR Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. 28659124

2017
dbSNP: rs80356483
rs80356483
G6PC
T 0.700 CausalMutation CLINVAR Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 28397058

2017
dbSNP: rs80356488
rs80356488
G6PC
GTA 0.700 CausalMutation CLINVAR Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 28397058

2017
dbSNP: rs104894567
rs104894567
G6PC
A 0.700 GeneticVariation CLINVAR Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 25308557

2015
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 25308557

2015
dbSNP: rs387906505
rs387906505
G6PC
A 0.700 CausalMutation CLINVAR Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia. 24980439

2015
dbSNP: rs80356483
rs80356483
G6PC
T 0.700 GeneticVariation CLINVAR Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 25308557

2015
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069

2014
dbSNP: rs80356482
rs80356482
G6PC
A 0.700 GeneticVariation CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827

2014