Variant: rs988133284 

    present in Gene: RPE65
    present in Chromosome: 1
    Position on Chromosome: 68439224
    Alleles of this Variant: G/A;C

rs988133284 in RPE65 gene and ACTH Deficiency, Isolated PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.