Variant: rs1178393503 

    present in Gene: CYP27A1
    present in Chromosome: 2
    Position on Chromosome: 218814181
    Alleles of this Variant: CT/-

rs1178393503 in CYP27A1 gene and Xanthomatosis, Cerebrotendinous PMID 11181744 2001 Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.