Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765905826
rs765905826
ARSA
G 0.700 GeneticVariation CLINVAR An Italian cohort study identifies four new pathologic mutations in the ARSA gene. 23559313

2013
dbSNP: rs765905826
rs765905826
ARSA
G 0.700 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012
dbSNP: rs765905826
rs765905826
ARSA
G 0.700 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008
dbSNP: rs765905826
rs765905826
ARSA
G 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: rs765905826
rs765905826
ARSA
G 0.700 GeneticVariation CLINVAR A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. 9490297

1998