Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315464(C;G)
Make rs74315464(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627048
GeneARSA
is asnp
is mentioned by
dbSNPrs74315464
ebirs74315464
HLIrs74315464
Exacrs74315464
Varsomers74315464
Maprs74315464
PheGenIrs74315464
hapmaprs74315464
1000 genomesrs74315464
hgdprs74315464
ensemblrs74315464
gopubmedrs74315464
geneviewrs74315464
scholarrs74315464
googlers74315464
pharmgkbrs74315464
gwascentralrs74315464
openSNPrs74315464
23andMers74315464
23andMe allrs74315464
SNP Nexus

SNPshotrs74315464
SNPdbers74315464
MSV3drs74315464
GWAS Ctlgrs74315464
Max Magnitude0
OMIM607574
Desc
Variant0019
Relatedalso
ClinVar
Risk rs74315464(G,T;G,T)
Alt rs74315464(G,T;G,T)
Reference rs74315464(C;C)
Significance Pathogenic
Disease not provided Arylsulfatase A pseudodeficiency
Variation info
Gene ARSA
CLNDBN not provided Arylsulfatase A pseudodeficiency
Reversed 1
HGVS NC_000022.10:g.51065476G>A; NC_000022.10:g.51065476G>C
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000058968.1, RCV000003213.2,


[PMID 14517960] Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).