Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123412

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs398123412(-;-)
Make rs398123412(-;CT)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625663
GeneARSA
is asnp
is mentioned by
dbSNPrs398123412
ebirs398123412
HLIrs398123412
Exacrs398123412
Varsomers398123412
Maprs398123412
PheGenIrs398123412
hapmaprs398123412
1000 genomesrs398123412
hgdprs398123412
ensemblrs398123412
gopubmedrs398123412
geneviewrs398123412
scholarrs398123412
googlers398123412
pharmgkbrs398123412
gwascentralrs398123412
openSNPrs398123412
23andMers398123412
23andMe allrs398123412
SNP Nexus

SNPshotrs398123412
SNPdbers398123412
MSV3drs398123412
GWAS Ctlgrs398123412
Max Magnitude0
ClinVar
Risk rs398123412(;)
Alt rs398123412(;)
Reference rs398123412(CT;CT)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064091_51064092delAG
CLNSRC ClinVar
CLNACC RCV000078934.4,