Variant: rs367600930 

    present in Gene: CEP120
    present in Chromosome: 5
    Position on Chromosome: 123399153
    Alleles of this Variant: C/G

rs367600930 in CEP120 gene and SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY PMID 25361962 2015 A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.