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rs74315457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315457(G;G)
Make rs74315457(G;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626976
GeneARSA
is asnp
is mentioned by
dbSNPrs74315457
ebirs74315457
HLIrs74315457
Exacrs74315457
Varsomers74315457
Maprs74315457
PheGenIrs74315457
hapmaprs74315457
1000 genomesrs74315457
hgdprs74315457
ensemblrs74315457
gopubmedrs74315457
geneviewrs74315457
scholarrs74315457
googlers74315457
pharmgkbrs74315457
gwascentralrs74315457
openSNPrs74315457
23andMers74315457
23andMe allrs74315457
SNP Nexus

SNPshotrs74315457
SNPdbers74315457
MSV3drs74315457
GWAS Ctlgrs74315457
Max Magnitude0
OMIM607574
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315457(G;G)
Alt rs74315457(G;G)
Reference rs74315457(T;T)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065404A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003202.2, RCV000003203.2, RCV000020320.2,


[PMID 1684088OA-icon.png] Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.


[PMID 12081727] High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy.