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rs398123411

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123411(A;G)
Make rs398123411(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625683
GeneARSA
is asnp
is mentioned by
dbSNPrs398123411
ebirs398123411
HLIrs398123411
Exacrs398123411
Varsomers398123411
Maprs398123411
PheGenIrs398123411
hapmaprs398123411
1000 genomesrs398123411
hgdprs398123411
ensemblrs398123411
gopubmedrs398123411
geneviewrs398123411
scholarrs398123411
googlers398123411
pharmgkbrs398123411
gwascentralrs398123411
openSNPrs398123411
23andMers398123411
23andMe allrs398123411
SNP Nexus

SNPshotrs398123411
SNPdbers398123411
MSV3drs398123411
GWAS Ctlgrs398123411
Max Magnitude0
ClinVar
Risk rs398123411(G;G)
Alt rs398123411(G;G)
Reference rs398123411(A;A)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064111T>C
CLNSRC ClinVar
CLNACC RCV000078932.4,