Rs12948217

rs12948217, also known as Y231X or Tyr231Ter, is a SNP in the ASPA gene.

According to 23andMe, only the A allele at rs12948217 confers risk to Canavan disease. A person with the CC, CT, or TT alleles is not a carrier; someone with the AC or AT alleles is a carrier; and people with two AA alleles are affected with the disease.