Gene: RPE65 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199683808
rs199683808
RPE65
A 0.700 GeneticVariation CLINVAR A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 18599565

2008
dbSNP: rs61751276
rs61751276
RPE65
T 0.700 GeneticVariation CLINVAR Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 9326941

1997