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rs74315466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315466(A;A)
Make rs74315466(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627007
GeneARSA
is asnp
is mentioned by
dbSNPrs74315466
ebirs74315466
HLIrs74315466
Exacrs74315466
Varsomers74315466
Maprs74315466
PheGenIrs74315466
hapmaprs74315466
1000 genomesrs74315466
hgdprs74315466
ensemblrs74315466
gopubmedrs74315466
geneviewrs74315466
scholarrs74315466
googlers74315466
pharmgkbrs74315466
gwascentralrs74315466
openSNPrs74315466
23andMers74315466
23andMe allrs74315466
SNP Nexus

SNPshotrs74315466
SNPdbers74315466
MSV3drs74315466
GWAS Ctlgrs74315466
Max Magnitude0
OMIM607574
Desc
Variant0021
Relatedalso
ClinVar
Risk rs74315466(A,T;A,T)
Alt rs74315466(A,T;A,T)
Reference rs74315466(G;G)
Significance Pathogenic
Disease Arylsulfatase A pseudodeficiency
Variation info
Gene ARSA
CLNDBN Arylsulfatase A pseudodeficiency
Reversed 1
HGVS NC_000022.10:g.51065435C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003215.2,