Variant: rs1331480187 

    present in Gene: KIAA0586
    present in Chromosome: 14
    Position on Chromosome: 58488876
    Alleles of this Variant: T/C

rs1331480187 in KIAA0586 gene and JOUBERT SYNDROME 23 PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

rs1331480187 in KIAA0586 gene and SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.