Variant: rs281797256 

    present in Gene: DHCR24
    present in Chromosome: 1
    Position on Chromosome: 54865405
    Alleles of this Variant: C/G

rs281797256 in DHCR24 gene and Desmosterolosis PMID 21671375 2011 Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

PMID 11519011 2001 Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.