Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148092995
rs148092995
ARSA
T 0.800 GeneticVariation CLINVAR Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. 28762252

2017
dbSNP: rs148092995
rs148092995
ARSA
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs148092995
rs148092995
ARSA
T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015
dbSNP: rs148092995
rs148092995
ARSA
T 0.800 GeneticVariation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003