Variant: rs1046551417 

    present in Gene: SGSH
    present in Chromosome: 17
    Position on Chromosome: 80212203
    Alleles of this Variant: C/A;G;T

rs1046551417 in SGSH gene and Mucopolysaccharidosis Type IIIA PMID 11182930 2000 Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

PMID 27590925 2016 A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.