Variant: rs118203941 

    present in Gene: ARSB
    present in Chromosome: 5
    Position on Chromosome: 78781974
    Alleles of this Variant: C/T

rs118203941 in ARSB gene and Leukodystrophy, Metachromatic PMID 17458871 2007 Mutational analysis of 105 mucopolysaccharidosis type VI patients.

PMID 1550123 1992 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

PMID 8116615 1994 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

rs118203941 in ARSB gene and Mucopolysaccharidosis VI PMID 22405600 2012 Expert recommendations for the laboratory diagnosis of MPS VI.