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rs398123419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123419(G;T)
Make rs398123419(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626052
GeneARSA
is asnp
is mentioned by
dbSNPrs398123419
ebirs398123419
HLIrs398123419
Exacrs398123419
Varsomers398123419
Maprs398123419
PheGenIrs398123419
hapmaprs398123419
1000 genomesrs398123419
hgdprs398123419
ensemblrs398123419
gopubmedrs398123419
geneviewrs398123419
scholarrs398123419
googlers398123419
pharmgkbrs398123419
gwascentralrs398123419
openSNPrs398123419
23andMers398123419
23andMe allrs398123419
SNP Nexus

SNPshotrs398123419
SNPdbers398123419
MSV3drs398123419
GWAS Ctlgrs398123419
Max Magnitude0
ClinVar
Risk rs398123419(T;T)
Alt rs398123419(T;T)
Reference rs398123419(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064480C>A
CLNSRC HGMD
CLNACC RCV000078953.4,