Variant: rs142450703 

    present in Gene: EYS
    present in Chromosome: 6
    Position on Chromosome: 65296034
    Alleles of this Variant: C/T

rs142450703 in EYS gene and Retinitis Pigmentosa 25 PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 20696082 2010 Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

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

PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 18836446 2008 EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.