Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62635288
rs62635288
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
A 0.700 GeneticVariation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970

2006