Variant: rs1135401734 

    present in Gene: SNORA100;HNRNPU
    present in Chromosome: 1
    Position on Chromosome: 244855505
    Alleles of this Variant: AG/-

rs1135401734 in SNORA100;HNRNPU gene and Epileptic encephalopathy PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.