Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015
dbSNP: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012
dbSNP: rs199476366
rs199476366
ARSA
T 0.800 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: rs199476366
rs199476366
ARSA
0.800 GeneticVariation UNIPROT