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rs398123414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123414(-;-)
Make rs398123414(-;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627585
GeneARSA
is asnp
is mentioned by
dbSNPrs398123414
ebirs398123414
HLIrs398123414
Exacrs398123414
Varsomers398123414
Maprs398123414
PheGenIrs398123414
hapmaprs398123414
1000 genomesrs398123414
hgdprs398123414
ensemblrs398123414
gopubmedrs398123414
geneviewrs398123414
scholarrs398123414
googlers398123414
pharmgkbrs398123414
gwascentralrs398123414
openSNPrs398123414
23andMers398123414
23andMe allrs398123414
SNP Nexus

SNPshotrs398123414
SNPdbers398123414
MSV3drs398123414
GWAS Ctlgrs398123414
Max Magnitude0
ClinVar
Risk rs398123414(;)
Alt rs398123414(;)
Reference rs398123414(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51066013delG
CLNSRC ClinVar
CLNACC RCV000078942.4,