Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. 15720392

2005
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. 15326627

2004
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. 8101038

1993