Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917745
rs121917745
RPE65
A 0.800 GeneticVariation CLINVAR Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 29681726

2018
dbSNP: rs121917745
rs121917745
RPE65
A 0.800 GeneticVariation CLINVAR RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949

2016
dbSNP: rs121917745
rs121917745
RPE65
A 0.800 GeneticVariation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312

2016
dbSNP: rs121917745
rs121917745
RPE65
A 0.800 GeneticVariation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952

2016
dbSNP: rs121917745
rs121917745
RPE65
A 0.800 GeneticVariation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820

2015
dbSNP: rs61752871
rs61752871
RPE65
A 0.800 CausalMutation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820

2015
dbSNP: rs121917745
rs121917745
RPE65
0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752871
rs61752871
RPE65
0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752909
rs61752909
RPE65
0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs62637004
rs62637004
RPE65
0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs62642584
rs62642584
RPE65
0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs62653011
rs62653011
RPE65
0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs121917745
rs121917745
RPE65
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752871
rs61752871
RPE65
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752909
rs61752909
RPE65
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs62637004
rs62637004
RPE65
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs62642584
rs62642584
RPE65
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs62653011
rs62653011
RPE65
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752871
rs61752871
RPE65
A 0.800 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841

2011
dbSNP: rs61752871
rs61752871
RPE65
A 0.800 CausalMutation CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183

2009
dbSNP: rs61752871
rs61752871
RPE65
A 0.800 CausalMutation CLINVAR Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. 19117922

2009
dbSNP: rs61752871
rs61752871
RPE65
A 0.800 CausalMutation CLINVAR Molecular characterization of Leber congenital amaurosis in Koreans. 18682808

2008
dbSNP: rs61752871
rs61752871
RPE65
A 0.800 CausalMutation CLINVAR Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. 16754667

2006
dbSNP: rs121917745
rs121917745
RPE65
A 0.800 GeneticVariation CLINVAR A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 15557452

2004
dbSNP: rs121917745
rs121917745
RPE65
0.800 GeneticVariation UNIPROT A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 15557452

2004