Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315456
rs74315456
ARSA
A 0.700 GeneticVariation CLINVAR Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy. 23701968

2013
dbSNP: rs74315456
rs74315456
ARSA
A 0.700 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012
dbSNP: rs74315456
rs74315456
ARSA
A 0.700 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006
dbSNP: rs74315456
rs74315456
ARSA
A 0.700 GeneticVariation 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: rs74315456
rs74315456
ARSA
A 0.700 GeneticVariation CLINVAR Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant. 7649558

1995
dbSNP: rs74315456
rs74315456
ARSA
A 0.700 GeneticVariation CLINVAR Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. 1678251

1991
dbSNP: rs74315456
rs74315456
ARSA
A 0.700 CausalMutation CLINVAR