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

rs74315479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315479(A;A)
Make rs74315479(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625639
GeneARSA
is asnp
is mentioned by
dbSNPrs74315479
ebirs74315479
HLIrs74315479
Exacrs74315479
Varsomers74315479
Maprs74315479
PheGenIrs74315479
hapmaprs74315479
1000 genomesrs74315479
hgdprs74315479
ensemblrs74315479
gopubmedrs74315479
geneviewrs74315479
scholarrs74315479
googlers74315479
pharmgkbrs74315479
gwascentralrs74315479
openSNPrs74315479
23andMers74315479
23andMe allrs74315479
SNP Nexus

SNPshotrs74315479
SNPdbers74315479
MSV3drs74315479
GWAS Ctlgrs74315479
Max Magnitude0
OMIM607574
Desc
Variant0036
Relatedalso
ClinVar
Risk rs74315479(A;A)
Alt rs74315479(A;A)
Reference rs74315479(G;G)
Significance Pathogenic
Disease Arylsulfatase a pseudodeficiency Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Arylsulfatase a pseudodeficiency, intermediate Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064067C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003230.2, RCV000078936.4,