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rs398123415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123415(-;-)
Make rs398123415(-;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627746
GeneARSA
is asnp
is mentioned by
dbSNPrs398123415
ebirs398123415
HLIrs398123415
Exacrs398123415
Varsomers398123415
Maprs398123415
PheGenIrs398123415
hapmaprs398123415
1000 genomesrs398123415
hgdprs398123415
ensemblrs398123415
gopubmedrs398123415
geneviewrs398123415
scholarrs398123415
googlers398123415
pharmgkbrs398123415
gwascentralrs398123415
openSNPrs398123415
23andMers398123415
23andMe allrs398123415
SNP Nexus

SNPshotrs398123415
SNPdbers398123415
MSV3drs398123415
GWAS Ctlgrs398123415
Max Magnitude0
ClinVar
Risk rs398123415(;)
Alt rs398123415(;)
Reference rs398123415(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51066174delC
CLNSRC ClinVar
CLNACC RCV000078944.4,