Variant: rs1555531363 

    present in Gene: KIAA0753
    present in Chromosome: 17
    Position on Chromosome: 6620832
    Alleles of this Variant: G/-

rs1555531363 in KIAA0753 gene and Familial aplasia of the vermis PMID 29138412 2017 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

rs1555531363 in KIAA0753 gene and Jeune thoracic dystrophy PMID 29138412 2017 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.