Variant: rs1563290033

present in Gene: FDFT1;LOC105379243 present in Chromosome: 8 Position on Chromosome: 11802586 Alleles of this Variant: CTTCCTAGTGTGAGCG/-

rs1563290033 in FDFT1;LOC105379243 gene and SQUALENE SYNTHASE DEFICIENCY PMID 29909962 2018 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.