Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752878
rs61752878
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 Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs61752878
rs61752878
RPE65
0.700 GeneticVariation UNIPROT A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 15557452

2004
dbSNP: rs61752878
rs61752878
RPE65
0.700 GeneticVariation UNIPROT A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. 12960219

2003
dbSNP: rs61752878
rs61752878
RPE65
0.700 GeneticVariation UNIPROT Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. 11095629

2000
dbSNP: rs61752878
rs61752878
RPE65
0.700 GeneticVariation UNIPROT Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 9501220

1998