Gene: ARSA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516288
rs1057516288
ARSA
G 0.700 GeneticVariation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003
dbSNP: rs1057516373
rs1057516373
ARSA
CAT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516595
rs1057516595
ARSA
GTA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516638
rs1057516638
ARSA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516730
rs1057516730
ARSA
A 0.700 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs1057516887
rs1057516887
ARSA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516907
rs1057516907
ARSA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516907
rs1057516907
ARSA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057517036
rs1057517036
ARSA
A 0.700 GeneticVariation CLINVAR Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. 26131420

2015
dbSNP: rs1057517044
rs1057517044
ARSA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517073
rs1057517073
ARSA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517237
rs1057517237
ARSA
C 0.700 GeneticVariation CLINVAR Complete mapping of a cystine knot and nested disulfides of recombinant human arylsulfatase A by multi-enzyme digestion and LC-MS analysis using CID and ETD. 23208745

2013
dbSNP: rs1057517346
rs1057517346
ARSA
CG 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517429
rs1057517429
ARSA
T 0.700 CausalMutation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003
dbSNP: rs1057517429
rs1057517429
ARSA
T 0.700 CausalMutation CLINVAR Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele. 12809638

2003
dbSNP: rs1135401754
rs1135401754
ARSA
G 0.700 CausalMutation CLINVAR

dbSNP: rs1135401755
rs1135401755
ARSA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1135401756
rs1135401756
ARSA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1135401757
rs1135401757
ARSA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1199771724
rs1199771724
ARSA
0.010 GeneticVariation BEFREE Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. 16110195

2005
dbSNP: rs121434215
rs121434215
ARSA
0.700 GeneticVariation UNIPROT

dbSNP: rs1220454918
rs1220454918
ARSA
0.010 GeneticVariation BEFREE The significant association of age at the onset of MLD symptoms with APOE ε2/ε3/ε4 and LRP1 c.766C>T polymorphisms was shown in multivariate stepwise regression analysis, in which other factors known to affect age at onset of the disease, i.e. clinical type of MLD, family connection of the patient and sex were also analyzed. 23701968

2013
dbSNP: rs1227301119
rs1227301119
ARSA
CTG 0.700 GeneticVariation CLINVAR ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. 17560502

2007
dbSNP: rs1375757476
rs1375757476
ARSA
T 0.700 GeneticVariation CLINVAR Variable onset of metachromatic leukodystrophy in a Vietnamese family. 11020646

2000
dbSNP: rs1375757476
rs1375757476
ARSA
T 0.700 CausalMutation CLINVAR Variable onset of metachromatic leukodystrophy in a Vietnamese family. 11020646

2000