Variant: rs758109813 

    present in Gene: EYS;LOC107986608
    present in Chromosome: 6
    Position on Chromosome: 63999115
    Alleles of this Variant: G/-

rs758109813 in EYS;LOC107986608 gene and Retinitis Pigmentosa 25 PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 20333770 2010 EYS is a major gene for rod-cone dystrophies in France.