Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. 22216298

2011
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Biochemical profiling to predict disease severity in metachromatic leukodystrophy. 19815439

2010
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. 16966551

2006
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. 9090526

1997
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 GeneticVariation CLINVAR Molecular genetics of metachromatic leukodystrophy. 7866401

1994
dbSNP: rs74315470
rs74315470
ARSA
A 0.700 CausalMutation CLINVAR