Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. 27261095

2016
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. 19021637

2009
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 CausalMutation CLINVAR ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs. 15375602

2004
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs. 15375602

2004
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR Molecular genetics of metachromatic leukodystrophy. 7866401

1994
dbSNP: rs74315479
rs74315479
ARSA
T 0.700 GeneticVariation CLINVAR Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. 7906588

1993