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rs121434215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434215(C;C)
Make rs121434215(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627221
GeneARSA
is asnp
is mentioned by
dbSNPrs121434215
ebirs121434215
HLIrs121434215
Exacrs121434215
Varsomers121434215
Maprs121434215
PheGenIrs121434215
hapmaprs121434215
1000 genomesrs121434215
hgdprs121434215
ensemblrs121434215
gopubmedrs121434215
geneviewrs121434215
scholarrs121434215
googlers121434215
pharmgkbrs121434215
gwascentralrs121434215
openSNPrs121434215
23andMers121434215
23andMe allrs121434215
SNP Nexus

SNPshotrs121434215
SNPdbers121434215
MSV3drs121434215
GWAS Ctlgrs121434215
Max Magnitude0
OMIM607574
Desc
Variant0042
Relatedalso
ClinVar
Risk rs121434215(C;C)
Alt rs121434215(C;C)
Reference rs121434215(T;T)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, adult type
Reversed 1
HGVS NC_000022.10:g.51065649A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003235.2,