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rs74315471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315471(A;A)
Make rs74315471(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626706
GeneARSA
is asnp
is mentioned by
dbSNPrs74315471
ebirs74315471
HLIrs74315471
Exacrs74315471
Varsomers74315471
Maprs74315471
PheGenIrs74315471
hapmaprs74315471
1000 genomesrs74315471
hgdprs74315471
ensemblrs74315471
gopubmedrs74315471
geneviewrs74315471
scholarrs74315471
googlers74315471
pharmgkbrs74315471
gwascentralrs74315471
openSNPrs74315471
23andMers74315471
23andMe allrs74315471
SNP Nexus

SNPshotrs74315471
SNPdbers74315471
MSV3drs74315471
GWAS Ctlgrs74315471
Max Magnitude0
OMIM607574
Desc
Variant0026
Relatedalso
ClinVar
Risk rs74315471(A;A)
Alt rs74315471(A;A)
Reference rs74315471(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065134C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003220.2, RCV000020321.2,


[PMID 8101083] Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.