Variant: rs1057519313 

    present in Gene: SLC6A9
    present in Chromosome: 1
    Position on Chromosome: 44001590
    Alleles of this Variant: T/C

rs1057519313 in SLC6A9 gene and GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE PMID 27481395 2016 Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.