Variant: rs368088025 

    present in Gene: RPE65
    present in Chromosome: 1
    Position on Chromosome: 68446825
    Alleles of this Variant: G/A;T

rs368088025 in RPE65 gene and LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

rs368088025 in RPE65 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs368088025 in RPE65 gene and Retinitis Pigmentosa 20 PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.