rs878853382, LCA5

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 23946133 2013
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 GeneticVariation CLINVAR