Variant: rs1135401809 

    present in Gene: KDM6A
    present in Chromosome: X
    Position on Chromosome: 45076827
    Alleles of this Variant: G/A;C

rs1135401809 in KDM6A gene and KABUKI SYNDROME 2 PMID 23076834 2013 KDM6A point mutations cause Kabuki syndrome.

PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.