Variant: rs104894475 

    present in Gene: GPHN;RDH12
    present in Chromosome: 14
    Position on Chromosome: 67726983
    Alleles of this Variant: C/A;G

rs104894475 in GPHN;RDH12 gene and LEBER CONGENITAL AMAUROSIS 13 PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

rs104894475 in GPHN;RDH12 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.