Gene: G6PC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894565
rs104894565
G6PC
T 0.700 GeneticVariation CLINVAR Mutation spectrum of type I glycogen storage disease in Hungary. 16435186

2005
dbSNP: rs104894566
rs104894566
G6PC
C 0.700 GeneticVariation CLINVAR Mutation spectrum of type I glycogen storage disease in Hungary. 16435186

2005
dbSNP: rs80356479
rs80356479
G6PC
T 0.700 CausalMutation CLINVAR Mutation spectrum of type I glycogen storage disease in Hungary. 16435186

2005
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959

2004
dbSNP: rs80356479
rs80356479
G6PC
T 0.700 CausalMutation CLINVAR Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. 15542400

2004
dbSNP: rs80356486
rs80356486
G6PC
C 0.700 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959

2004
dbSNP: rs104894563
rs104894563
G6PC
T 0.700 CausalMutation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs104894563
rs104894563
G6PC
T 0.700 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs104894563
rs104894563
G6PC
T 0.700 CausalMutation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs104894563
rs104894563
G6PC
T 0.700 GeneticVariation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs104894565
rs104894565
G6PC
T 0.700 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs104894565
rs104894565
G6PC
T 0.700 CausalMutation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs104894566
rs104894566
G6PC
C 0.700 GeneticVariation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs104894566
rs104894566
G6PC
C 0.700 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs104894567
rs104894567
G6PC
A 0.700 GeneticVariation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs104894567
rs104894567
G6PC
A 0.700 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs1189630738
rs1189630738
G6PC
T 0.700 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs1189630738
rs1189630738
G6PC
T 0.700 GeneticVariation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs1801175
rs1801175
G6PC
T 0.700 CausalMutation CLINVAR The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. 12093795

2002
dbSNP: rs1801176
rs1801176
G6PC
A 0.700 CausalMutation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566

2002
dbSNP: rs367727229
rs367727229
G6PC
T 0.700 GeneticVariation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs387906505
rs387906505
G6PC
A 0.700 CausalMutation CLINVAR The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. 11739393

2002
dbSNP: rs764920787
rs764920787
G6PC
A 0.700 GeneticVariation CLINVAR Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 11949931

2002