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rs199476366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476366(A;A)
Make rs199476366(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626708
GeneARSA
is asnp
is mentioned by
dbSNPrs199476366
ebirs199476366
HLIrs199476366
Exacrs199476366
Varsomers199476366
Maprs199476366
PheGenIrs199476366
hapmaprs199476366
1000 genomesrs199476366
hgdprs199476366
ensemblrs199476366
gopubmedrs199476366
geneviewrs199476366
scholarrs199476366
googlers199476366
pharmgkbrs199476366
gwascentralrs199476366
openSNPrs199476366
23andMers199476366
23andMe allrs199476366
SNP Nexus

SNPshotrs199476366
SNPdbers199476366
MSV3drs199476366
GWAS Ctlgrs199476366
Max Magnitude0
ClinVar
Risk rs199476366(A;A)
Alt rs199476366(A;A)
Reference rs199476366(G;G)
Significance Pathogenic
Disease not provided Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065136C>T
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000058979.3, RCV000150061.3,