Variant: rs398123023 

    present in Gene: UBE3B
    present in Chromosome: 12
    Position on Chromosome: 109521251
    Alleles of this Variant: A/C

rs398123023 in UBE3B gene and Kaufman oculocerebrofacial syndrome PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.