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rs74315456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315456(C;T)
Make rs74315456(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627338
GeneARSA
is asnp
is mentioned by
dbSNPrs74315456
ebirs74315456
HLIrs74315456
Exacrs74315456
Varsomers74315456
Maprs74315456
PheGenIrs74315456
hapmaprs74315456
1000 genomesrs74315456
hgdprs74315456
ensemblrs74315456
gopubmedrs74315456
geneviewrs74315456
scholarrs74315456
googlers74315456
pharmgkbrs74315456
gwascentralrs74315456
openSNPrs74315456
23andMers74315456
23andMe allrs74315456
SNP Nexus

SNPshotrs74315456
SNPdbers74315456
MSV3drs74315456
GWAS Ctlgrs74315456
Max Magnitude0
OMIM607574
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315456(T;T)
Alt rs74315456(T;T)
Reference rs74315456(C;C)
Significance Other
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, late infantile Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065766G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003199.2, RCV000020317.5,


[PMID 1678251OA-icon.png] Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.