Variant: rs121918577 

    present in Gene: PDE6A
    present in Chromosome: 5
    Position on Chromosome: 149907345
    Alleles of this Variant: G/A;T

rs121918577 in PDE6A gene and RETINITIS PIGMENTOSA 43 PMID 7493036 1995 Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

PMID 10393062 1999 Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.