rs137852834, CEP290

N. diseases: 13
Disease: Ciliopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
0.010 GeneticVariation BEFREE This observation led us to consider targeted exon skipping to bypass protein truncation resulting from a recurrent mutation in exon 36 (c.4723A > T, p.Lys1575*) causing isolated retinal ciliopathy. 31091803 2019