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rs199476371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs199476371(CT;CT)
Make rs199476371(CT;TC)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627338
GeneARSA
is asnp
is mentioned by
dbSNPrs199476371
ebirs199476371
HLIrs199476371
Exacrs199476371
Varsomers199476371
Maprs199476371
PheGenIrs199476371
hapmaprs199476371
1000 genomesrs199476371
hgdprs199476371
ensemblrs199476371
gopubmedrs199476371
geneviewrs199476371
scholarrs199476371
googlers199476371
pharmgkbrs199476371
gwascentralrs199476371
openSNPrs199476371
23andMers199476371
23andMe allrs199476371
SNP Nexus

SNPshotrs199476371
SNPdbers199476371
MSV3drs199476371
GWAS Ctlgrs199476371
Max Magnitude0
ClinVar
Risk rs199476371(CT;CT)
Alt rs199476371(CT;CT)
Reference rs199476371(TC;TC)
Significance Pathogenic
Disease Metachromatic leukodystrophy not provided
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe not provided
Reversed 1
HGVS NC_000022.10:g.51065766_51065767delGAinsAG
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000003208.2, RCV000058959.1,


[PMID 7825603OA-icon.png] Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.