{{Rsnum
|rsid=2071421
|Gene=ARSA
|Chromosome=22
|position=50625988
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2094
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ARSA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 75.2 | 23.0 | 1.8
| HCB | 63.5 | 33.6 | 2.9
| JPT | 69.0 | 30.1 | 0.9
| YRI | 37.4 | 41.5 | 21.1
| ASW | 42.1 | 45.6 | 12.3
| CHB | 63.5 | 33.6 | 2.9
| CHD | 63.3 | 35.8 | 0.9
| GIH | 77.2 | 22.8 | 0.0
| LWK | 45.5 | 41.8 | 12.7
| MEX | 56.9 | 32.8 | 10.3
| MKK | 42.9 | 45.5 | 11.5
| TSI | 71.6 | 24.5 | 3.9
| HapMapRevision=28
}}{{omim
|desc=ARYLSULFATASE A POLYMORPHISM
|id=607574
|rsnum=2071421
|variant=0002
}}

{{ neighbor
| rsid = 28940895
| distance = 542
}}
{{ neighbor
| rsid = 28940894
| distance = 283
}}

{{ClinVar
|rsid=2071421
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=51064416
|CHROM=22
|GMAF=0.2092
|dbSNPBuildID=96
|SSR=0
|SAO=1
|VP=0x05036800000017051f110100
|GENEINFO=ARSA:410
|GENE_NAME=ARSA
|GENE_ID=410
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.51064416T>C
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=101; NBK1130; 607574.0002
|CLNSIG=5
|CLNCUI=C0023522
|CLNDBN=ARYLSULFATASE A POLYMORPHISM; Metachromatic leukodystrophy; not provided
|Disease=ARYLSULFATASE A POLYMORPHISM; Metachromatic leukodystrophy; not provided
|CLNACC=RCV000003191.1; RCV000020310.1; RCV000078931.1
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7906; 0.2094
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1130:C0023522:250100:512:396338004
|COMMON=1
}}

{{PMID Auto
|PMID=2574462
|Title=Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
|OA=1
}}

{{PMID Auto
|PMID=9402957
|Title=Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
}}

{{GET Evidence
|gene=ARSA
|aa_change=Asn350Ser
|aa_change_short=N350S
|impact=benign
|qualified_impact=Low clinical importance,  benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2071421
|overall_frequency_n=1954
|overall_frequency_d=10666
|overall_frequency=0.183199
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=2
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.012
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=2
|summary_short=This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}