Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62642583
rs62642583
RPE65
G 0.700 CausalMutation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551

2017
dbSNP: rs281865520
rs281865520
RPE65
AT 0.700 CausalMutation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952

2016
dbSNP: rs368088025
rs368088025
RPE65
A 0.700 CausalMutation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312

2016
dbSNP: rs61752908
rs61752908
RPE65
T 0.700 GeneticVariation CLINVAR Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 26427455

2016
dbSNP: rs61751279
rs61751279
RPE65
A 0.700 CausalMutation CLINVAR Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. 26024124

2015
dbSNP: rs61752869
rs61752869
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752870
rs61752870
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752874
rs61752874
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752878
rs61752878
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752883
rs61752883
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752896
rs61752896
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61752901
rs61752901
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs62637002
rs62637002
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs62637007
rs62637007
RPE65
0.700 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505

2013
dbSNP: rs61751279
rs61751279
RPE65
A 0.700 CausalMutation CLINVAR Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. 21911650

2012
dbSNP: rs61752869
rs61752869
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752870
rs61752870
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752874
rs61752874
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752878
rs61752878
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752883
rs61752883
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752896
rs61752896
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752901
rs61752901
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs62637002
rs62637002
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs62637007
rs62637007
RPE65
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs281865520
rs281865520
RPE65
AT 0.700 CausalMutation CLINVAR Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 19959640

2010