Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. 18693274

2008
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. 12809637

2003
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. 10477432

1999
dbSNP: rs74315458
rs74315458
ARSA
T 0.710 CausalMutation CLINVAR Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. 1353340

1992