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rs74315481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315481(C;T)
Make rs74315481(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625443
GeneARSA
is asnp
is mentioned by
dbSNPrs74315481
ebirs74315481
HLIrs74315481
Exacrs74315481
Varsomers74315481
Maprs74315481
PheGenIrs74315481
hapmaprs74315481
1000 genomesrs74315481
hgdprs74315481
ensemblrs74315481
gopubmedrs74315481
geneviewrs74315481
scholarrs74315481
googlers74315481
pharmgkbrs74315481
gwascentralrs74315481
openSNPrs74315481
23andMers74315481
23andMe allrs74315481
SNP Nexus

SNPshotrs74315481
SNPdbers74315481
MSV3drs74315481
GWAS Ctlgrs74315481
Max Magnitude0
OMIM607574
Desc
Variant0039
Relatedalso
ClinVar
Risk rs74315481(T;T)
Alt rs74315481(T;T)
Reference rs74315481(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, mild Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51063871G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003233.2, RCV000020313.1,


[PMID 7909527] Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.