Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801175
rs1801175
G6PC
T 0.710 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959

2004
dbSNP: rs1801175
rs1801175
G6PC
0.710 GeneticVariation BEFREE Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. 7623438

1995
dbSNP: rs1801175
rs1801175
G6PC
T 0.710 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 8211187

1993