Variant: rs104893848 

    present in Gene: LRAT
    present in Chromosome: 4
    Position on Chromosome: 154744851
    Alleles of this Variant: T/A;C

rs104893848 in LRAT gene and Leber Congenital Amaurosis 14 PMID 18055821 2007 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

PMID 17011878 2006 Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

PMID 11381255 2001 Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.