Variant: rs398123575 

    present in Gene: EYS
    present in Chromosome: 6
    Position on Chromosome: 63864319
    Alleles of this Variant: A/C

rs398123575 in EYS gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs398123575 in EYS gene and Retinitis Pigmentosa PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.