Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751276
rs61751276
RPE65
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 9326941

1997