Variant: rs1057519279 

    present in Gene: KMT2B
    present in Chromosome: 19
    Position on Chromosome: 35720980
    Alleles of this Variant: C/T

rs1057519279 in KMT2B gene and DYSTONIA 28, CHILDHOOD-ONSET PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.