Gene: ARSA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148092995
rs148092995
ARSA
0.800 GeneticVariation UNIPROT

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 Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003
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 Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015
dbSNP: rs199476359
rs199476359
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs199476359
rs199476359
ARSA
A 0.800 CausalMutation CLINVAR

dbSNP: rs199476366
rs199476366
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015
dbSNP: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation 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: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs199476366
rs199476366
ARSA
T 0.800 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012
dbSNP: rs199476382
rs199476382
ARSA
T 0.800 GeneticVariation CLINVAR Identification of seven novel mutations associated with metachromatic leukodystrophy. 7581401

1995
dbSNP: rs199476382
rs199476382
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs199476382
rs199476382
ARSA
T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008
dbSNP: rs199476382
rs199476382
ARSA
T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006
dbSNP: rs199476382
rs199476382
ARSA
T 0.800 GeneticVariation CLINVAR Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. 28667691

2017
dbSNP: rs199476382
rs199476382
ARSA
T 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507

2011
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. 8101038

1993
dbSNP: rs74315459
rs74315459
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. 15326627

2004
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. 15720392

2005
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs74315459
rs74315459
ARSA
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315471
rs74315471
ARSA
T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006