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rs74315458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315458(A;A)
Make rs74315458(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627374
GeneARSA
is asnp
is mentioned by
dbSNPrs74315458
ebirs74315458
HLIrs74315458
Exacrs74315458
Varsomers74315458
Maprs74315458
PheGenIrs74315458
hapmaprs74315458
1000 genomesrs74315458
hgdprs74315458
ensemblrs74315458
gopubmedrs74315458
geneviewrs74315458
scholarrs74315458
googlers74315458
pharmgkbrs74315458
gwascentralrs74315458
openSNPrs74315458
23andMers74315458
23andMe allrs74315458
SNP Nexus

SNPshotrs74315458
SNPdbers74315458
MSV3drs74315458
GWAS Ctlgrs74315458
Max Magnitude0
OMIM607574
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74315458(A;A)
Alt rs74315458(A;A)
Reference rs74315458(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, late-onset Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065802C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003205.2, RCV000020316.2,


[PMID 1353340] Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.


[PMID 15720392] Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.