Variant: rs864309712 

    present in Gene: LOC105371157;KIAA0556
    present in Chromosome: 16
    Position on Chromosome: 27749634
    Alleles of this Variant: C/T

rs864309712 in LOC105371157;KIAA0556 gene and Familial aplasia of the vermis PMID 26714646 2015 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.