Variant: rs199683808 

    present in Gene: RPE65
    present in Chromosome: 1
    Position on Chromosome: 68448644
    Alleles of this Variant: G/A;C

rs199683808 in RPE65 gene and Retinal Dystrophies PMID 18599565 2008 A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.