Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Biochemical profiling to predict disease severity in metachromatic leukodystrophy. 19815439

2010
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. 17560502

2007
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. 16678723

2006
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy. 15139291

2004
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 GeneticVariation CLINVAR Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy. 15139291

2004
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 GeneticVariation CLINVAR Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. 12809637

2003
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. 12809637

2003
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. 10477432

1999
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 GeneticVariation CLINVAR Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. 10477432

1999
dbSNP: rs199476355
rs199476355
ARSA
T 0.700 CausalMutation CLINVAR Molecular genetics of metachromatic leukodystrophy. 7866401

1994