Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476384
rs199476384
ARSA
G 0.710 GeneticVariation CLINVAR Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia. 26553228

2015
dbSNP: rs199476384
rs199476384
ARSA
G 0.710 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015
dbSNP: rs199476384
rs199476384
ARSA
G 0.710 GeneticVariation CLINVAR Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy. 23701968

2013
dbSNP: rs199476384
rs199476384
ARSA
G 0.710 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs199476384
rs199476384
ARSA
G 0.710 GeneticVariation CLINVAR Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy. 14680985

2003