Variant: rs104894476 

    present in Gene: RDH12;GPHN;ZFYVE26
    present in Chromosome: 14
    Position on Chromosome: 67729220
    Alleles of this Variant: C/G

rs104894476 in RDH12;GPHN;ZFYVE26 gene and LEBER CONGENITAL AMAUROSIS 13 PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.