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rs80338820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338820(A;A)
Make rs80338820(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625578
GeneARSA
is asnp
is mentioned by
dbSNPrs80338820
ebirs80338820
HLIrs80338820
Exacrs80338820
Varsomers80338820
Maprs80338820
PheGenIrs80338820
hapmaprs80338820
1000 genomesrs80338820
hgdprs80338820
ensemblrs80338820
gopubmedrs80338820
geneviewrs80338820
scholarrs80338820
googlers80338820
pharmgkbrs80338820
gwascentralrs80338820
openSNPrs80338820
23andMers80338820
23andMe allrs80338820
SNP Nexus

SNPshotrs80338820
SNPdbers80338820
MSV3drs80338820
GWAS Ctlgrs80338820
Max Magnitude0
OMIM607574
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338820(A;A)
Alt rs80338820(A;A)
Reference rs80338820(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064006C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003204.2, RCV000020312.2,


[PMID 1684088OA-icon.png] Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.