Variant: rs1554025656 

    present in Gene: KIAA1109
    present in Chromosome: 4
    Position on Chromosome: 122249571
    Alleles of this Variant: G/A

rs1554025656 in KIAA1109 gene and ALKURAYA-KUCINSKAS SYNDROME PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 29290337 2018 KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.