Variant: rs104894474 

    present in Gene: RDH12;GPHN
    present in Chromosome: 14
    Position on Chromosome: 67726086
    Alleles of this Variant: G/T

rs104894474 in RDH12;GPHN gene and LEBER CONGENITAL AMAUROSIS 13 PMID 26355662 2016 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

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

PMID 17389517 2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

rs104894474 in RDH12;GPHN gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.