Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315471
rs74315471
ARSA
T 0.800 GeneticVariation CLINVAR Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. 28670130

2017
dbSNP: rs74315471
rs74315471
ARSA
T 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507

2011
dbSNP: rs74315471
rs74315471
ARSA
T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006
dbSNP: rs74315471
rs74315471
ARSA
T 0.800 GeneticVariation CLINVAR Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. 8101083

1993
dbSNP: rs74315471
rs74315471
ARSA
T 0.800 CausalMutation CLINVAR