Gene: G6PC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356482
rs80356482
G6PC
A 0.700 CausalMutation CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827

2014
dbSNP: rs104894566
rs104894566
G6PC
C 0.700 GeneticVariation CLINVAR Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 23352793

2013
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. 23312056

2013
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. 24385852

2013
dbSNP: rs764920787
rs764920787
G6PC
A 0.700 GeneticVariation CLINVAR Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 23352793

2013
dbSNP: rs780226142
rs780226142
G6PC
A 0.700 GeneticVariation CLINVAR Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 23046672

2013
dbSNP: rs80356482
rs80356482
G6PC
C 0.700 CausalMutation CLINVAR Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 23352793

2013
dbSNP: rs80356483
rs80356483
G6PC
T 0.700 GeneticVariation CLINVAR Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 23352793

2013
dbSNP: rs80356484
rs80356484
G6PC
T 0.700 CausalMutation CLINVAR Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. 23486339

2013
dbSNP: rs80356488
rs80356488
G6PC
GTA 0.700 CausalMutation CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091

2013
dbSNP: rs80356488
rs80356488
G6PC
GTA 0.700 GeneticVariation CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091

2013
dbSNP: rs104894567
rs104894567
G6PC
A 0.700 GeneticVariation CLINVAR New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase. 21983240

2012
dbSNP: rs80356484
rs80356484
G6PC
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: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Glucose-6-phosphatase deficiency. 21599942

2011
dbSNP: rs80356484
rs80356484
G6PC
T 0.700 CausalMutation CLINVAR Glucose-6-phosphatase deficiency. 21599942

2011
dbSNP: rs80356479
rs80356479
G6PC
T 0.700 CausalMutation CLINVAR Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 19762333

2009
dbSNP: rs80356479
rs80356479
G6PC
T 0.700 CausalMutation CLINVAR Emerging therapies for glycogen storage disease type I. 19541498

2009
dbSNP: rs80356488
rs80356488
G6PC
GTA 0.700 CausalMutation CLINVAR Emerging therapies for glycogen storage disease type I. 19541498

2009
dbSNP: rs104894563
rs104894563
G6PC
T 0.700 GeneticVariation CLINVAR Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. 18083610

2008
dbSNP: rs104894567
rs104894567
G6PC
A 0.700 GeneticVariation CLINVAR Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. 18083610

2008
dbSNP: rs1801176
rs1801176
G6PC
A 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
T 0.700 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. 18449899

2008
dbSNP: rs104894567
rs104894567
G6PC
A 0.700 GeneticVariation CLINVAR Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker. 17994282

2007
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. 18008183

2007