Variant: rs869312183

present in Gene: TOPORS present in Chromosome: 9 Position on Chromosome: 32541986 Alleles of this Variant: G/A

rs869312183 in TOPORS gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.