Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 23188109

2012
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931

2010
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006