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rs398123416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123416(-;-)
Make rs398123416(-;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626935
GeneARSA
is asnp
is mentioned by
dbSNPrs398123416
ebirs398123416
HLIrs398123416
Exacrs398123416
Varsomers398123416
Maprs398123416
PheGenIrs398123416
hapmaprs398123416
1000 genomesrs398123416
hgdprs398123416
ensemblrs398123416
gopubmedrs398123416
geneviewrs398123416
scholarrs398123416
googlers398123416
pharmgkbrs398123416
gwascentralrs398123416
openSNPrs398123416
23andMers398123416
23andMe allrs398123416
SNP Nexus

SNPshotrs398123416
SNPdbers398123416
MSV3drs398123416
GWAS Ctlgrs398123416
Max Magnitude0
ClinVar
Risk rs398123416(;)
Alt rs398123416(;)
Reference rs398123416(T;T)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065363delA
CLNSRC ClinVar
CLNACC RCV000078948.4,