Variant: rs192003551 

    present in Gene: RPGRIP1
    present in Chromosome: 14
    Position on Chromosome: 21294745
    Alleles of this Variant: C/A;T

rs192003551 in RPGRIP1 gene and Cone-Rod Dystrophy 13 PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.