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rs74315455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315455(A;A)
Make rs74315455(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627329
GeneARSA
is asnp
is mentioned by
dbSNPrs74315455
ebirs74315455
HLIrs74315455
Exacrs74315455
Varsomers74315455
Maprs74315455
PheGenIrs74315455
hapmaprs74315455
1000 genomesrs74315455
hgdprs74315455
ensemblrs74315455
gopubmedrs74315455
geneviewrs74315455
scholarrs74315455
googlers74315455
pharmgkbrs74315455
gwascentralrs74315455
openSNPrs74315455
23andMers74315455
23andMe allrs74315455
SNP Nexus

SNPshotrs74315455
SNPdbers74315455
MSV3drs74315455
GWAS Ctlgrs74315455
Max Magnitude0
OMIM607574
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315455(A,T;A,T)
Alt rs74315455(A,T;A,T)
Reference rs74315455(G;G)
Significance Pathogenic
Disease not provided Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065757C>A; NC_000022.10:g.51065757C>T
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000058960.1, RCV000003198.2, RCV000020318.2,


[PMID 1673291OA-icon.png] Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.


[PMID 10477432] Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.