Variant: rs137853190

present in Gene: EYS;PHF3 present in Chromosome: 6 Position on Chromosome: 63720626 Alleles of this Variant: A/T

rs137853190 in EYS;PHF3 gene and Retinitis Pigmentosa 25 PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.