Variant: rs28940313 

    present in Gene: ZFYVE26;RDH12;GPHN
    present in Chromosome: 14
    Position on Chromosome: 67729209
    Alleles of this Variant: A/G

rs28940313 in ZFYVE26;RDH12;GPHN 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.