Variant: rs1057518644 

    present in Gene: HGSNAT
    present in Chromosome: 8
    Position on Chromosome: 43192413
    Alleles of this Variant: C/T

rs1057518644 in HGSNAT gene and MPS III C PMID 27733599 2017 Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.