Variant: rs1554102026 

    present in Gene: CEP120
    present in Chromosome: 5
    Position on Chromosome: 123378355
    Alleles of this Variant: A/G

rs1554102026 in CEP120 gene and JOUBERT SYNDROME 31 PMID 27208211 2016 Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.