Variant: rs766143193

present in Gene: LCA5;LOC100506851 present in Chromosome: 6 Position on Chromosome: 79487422 Alleles of this Variant: G/A;T

rs766143193 in LCA5;LOC100506851 gene and Leber Congenital Amaurosis PMID 23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.