Variant: rs1563339323

present in Gene: FDFT1 present in Chromosome: 8 Position on Chromosome: 11831494 Alleles of this Variant: TC/AG

rs1563339323 in FDFT1 gene and SQUALENE SYNTHASE DEFICIENCY PMID 29909962 2018 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.