rs80356489

rs80356489, also known as Trp118Arg or W118R, is a SNP in the solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 gene. This mutation is reported by 23andMe as accounting for approximately 40% of glycogen storage disease type 1b-causing mutations in people of Japanese ancestry; 23andMe uses the term i5012878 for this SNP. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.