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

rs74315482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315482(C;T)
Make rs74315482(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625213
GeneARSA
is asnp
is mentioned by
dbSNPrs74315482
ebirs74315482
HLIrs74315482
Exacrs74315482
Varsomers74315482
Maprs74315482
PheGenIrs74315482
hapmaprs74315482
1000 genomesrs74315482
hgdprs74315482
ensemblrs74315482
gopubmedrs74315482
geneviewrs74315482
scholarrs74315482
googlers74315482
pharmgkbrs74315482
gwascentralrs74315482
openSNPrs74315482
23andMers74315482
23andMe allrs74315482
SNP Nexus

SNPshotrs74315482
SNPdbers74315482
MSV3drs74315482
GWAS Ctlgrs74315482
Max Magnitude0
OMIM607574
Desc
Variant0040
Relatedalso
ClinVar
Risk rs74315482(T;T)
Alt rs74315482(T;T)
Reference rs74315482(C;C)
Significance Pathogenic
Disease Arylsulfatase A pseudodeficiency
Variation info
Gene ARSA
CLNDBN Arylsulfatase A pseudodeficiency
Reversed 1
HGVS NC_000022.10:g.51063641G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003234.2,