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: rs199476359
rs199476359
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs199476366
rs199476366
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs199476382
rs199476382
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs74315459
rs74315459
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs74315471
rs74315471
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs74315480
rs74315480
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs74315483
rs74315483
ARSA
0.800 GeneticVariation UNIPROT

dbSNP: rs28940893
rs28940893
ARSA
0.750 GeneticVariation BEFREE The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%). 9096767

1997
dbSNP: rs28940893
rs28940893
ARSA
0.750 GeneticVariation BEFREE Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A). 20339381

2010
dbSNP: rs28940893
rs28940893
ARSA
0.750 GeneticVariation BEFREE Our study has confirmed that c.459+1G>A and p.P426L are the most frequently found MLD-causing mutations in Europe. 16140556

2005
dbSNP: rs28940893
rs28940893
ARSA
0.750 GeneticVariation BEFREE In concordance with previous reports, IVS2+1G>A and P426L were the most common ARSA-MLD mutations in our cohort of MLD patients, found at frequencies of 0.05 and 0.08, respectively. 25965562

2015
dbSNP: rs28940893
rs28940893
ARSA
0.750 GeneticVariation BEFREE The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy. 16966551

2006
dbSNP: rs74315457
rs74315457
ARSA
0.740 GeneticVariation BEFREE The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%). 9096767

1997
dbSNP: rs74315457
rs74315457
ARSA
0.740 GeneticVariation BEFREE Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A). 20339381

2010
dbSNP: rs74315457
rs74315457
ARSA
0.740 GeneticVariation BEFREE It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA activity, but the enzyme can still cope with a part of the substrate influx, leading to late-juvenile-onset MLD with such strikingly similar phenotypes remaining a little bit of the adult (psychiatric) type. 9007312

1996
dbSNP: rs74315457
rs74315457
ARSA
0.740 GeneticVariation BEFREE The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy. 16966551

2006
dbSNP: rs74315455
rs74315455
ARSA
0.720 GeneticVariation BEFREE The other allele, with a substitution of Gly-99 by Asp (allele 445A), had been identified in a Japanese adult form of MLD in a heterozygous combination. 8101083

1993
dbSNP: rs74315455
rs74315455
ARSA
0.720 GeneticVariation BEFREE In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD. 1673291

1991
dbSNP: rs199476357
rs199476357
ARSA
0.710 GeneticVariation UNIPROT

dbSNP: rs199476357
rs199476357
ARSA
0.710 GeneticVariation BEFREE We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. 16678723

2006
dbSNP: rs199476361
rs199476361
ARSA
0.710 GeneticVariation UNIPROT

dbSNP: rs199476361
rs199476361
ARSA
0.710 GeneticVariation BEFREE We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. 16678723

2006
dbSNP: rs199476374
rs199476374
ARSA
0.710 GeneticVariation BEFREE Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. 10381328

1999
dbSNP: rs199476374
rs199476374
ARSA
0.710 GeneticVariation UNIPROT