ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Disease: Arylsulfatase A Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2071421
rs2071421
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C2713319
Disease:
Arylsulfatase A Deficiency 		0.010 GeneticVariation BEFREE Screening 182 normal chromosomes identified a frequency of 8.8% of this allele; moreover, we identified two unrelated subjects with the polyA- mutation in the absence of the N350S mutation, and this infrequent haplotype reinforced the heterogeneity of conditions with ARSA deficiency. 10477432 1999