Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141252097
rs141252097
PDE6A
T 0.700 GeneticVariation CLINVAR Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. 25775262

2015
dbSNP: rs141252097
rs141252097
PDE6A
T 0.700 GeneticVariation CLINVAR Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. 10393062

1999