Variant: rs869312187 

    present in Gene: PRPF31
    present in Chromosome: 19
    Position on Chromosome: 54128351
    Alleles of this Variant: C/A;T

rs869312187 in PRPF31 gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.