Rs1801175

rs1801175, also known as R83C or Arg83Cys, is a SNP in the glucose-6-phosphatase G6PC gene. The common allele is rs1801175(C).

Observed to date primarily in Ashkenazi Jews, at a frequency of about 1 in 100, the rs1801175(T) allele is associated with Glycogen storage disease type 1A; heterozgyotes are unaffected carriers, homozygote rs1801175(T;T) will have the disease. However, the mutation alone does not predict the severity of the disease.

Note that 23andMe tests for this SNP using their own terminology (i3002486).

See also: OMIM 232200.0002


 * is_associated_with_disease::Glycogen storage disease