Variant: rs139444207 

    present in Gene: PDE6A
    present in Chromosome: 5
    Position on Chromosome: 149895206
    Alleles of this Variant: G/T

rs139444207 in PDE6A gene and RETINITIS PIGMENTOSA 43 PMID 10393062 1999 Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

PMID 7493036 1995 Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

rs139444207 in PDE6A gene and Retinitis Pigmentosa PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

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