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rs398123418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123418(C;T)
Make rs398123418(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626057
GeneARSA
is asnp
is mentioned by
dbSNPrs398123418
ebirs398123418
HLIrs398123418
Exacrs398123418
Varsomers398123418
Maprs398123418
PheGenIrs398123418
hapmaprs398123418
1000 genomesrs398123418
hgdprs398123418
ensemblrs398123418
gopubmedrs398123418
geneviewrs398123418
scholarrs398123418
googlers398123418
pharmgkbrs398123418
gwascentralrs398123418
openSNPrs398123418
23andMers398123418
23andMe allrs398123418
SNP Nexus

SNPshotrs398123418
SNPdbers398123418
MSV3drs398123418
GWAS Ctlgrs398123418
Max Magnitude0
ClinVar
Risk rs398123418(T;T)
Alt rs398123418(T;T)
Reference rs398123418(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064485G>A
CLNSRC HGMD
CLNACC RCV000078952.4,