Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315467
rs74315467
ARSA
A 0.700 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315467
rs74315467
ARSA
A 0.700 CausalMutation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012
dbSNP: rs74315467
rs74315467
ARSA
A 0.700 CausalMutation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003
dbSNP: rs74315467
rs74315467
ARSA
A 0.700 CausalMutation 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: rs74315467
rs74315467
ARSA
A 0.700 CausalMutation CLINVAR Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene. 9192271

1997
dbSNP: rs74315467
rs74315467
ARSA
A 0.700 CausalMutation CLINVAR Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. 7906588

1993