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rs74315484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315484(G;T)
Make rs74315484(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626228
GeneARSA
is asnp
is mentioned by
dbSNPrs74315484
ebirs74315484
HLIrs74315484
Exacrs74315484
Varsomers74315484
Maprs74315484
PheGenIrs74315484
hapmaprs74315484
1000 genomesrs74315484
hgdprs74315484
ensemblrs74315484
gopubmedrs74315484
geneviewrs74315484
scholarrs74315484
googlers74315484
pharmgkbrs74315484
gwascentralrs74315484
openSNPrs74315484
23andMers74315484
23andMe allrs74315484
SNP Nexus

SNPshotrs74315484
SNPdbers74315484
MSV3drs74315484
GWAS Ctlgrs74315484
Max Magnitude0
OMIM607574
Desc
Variant0046
Relatedalso
ClinVar
Risk rs74315484(T;T)
Alt rs74315484(T;T)
Reference rs74315484(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy not provided
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, late infantile not provided
Reversed 1
HGVS NC_000022.10:g.51064656C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000003239.2, RCV000058989.1,


[PMID 10220151] Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.