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rs74315478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315478(C;T)
Make rs74315478(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625653
GeneARSA
is asnp
is mentioned by
dbSNPrs74315478
ebirs74315478
HLIrs74315478
Exacrs74315478
Varsomers74315478
Maprs74315478
PheGenIrs74315478
hapmaprs74315478
1000 genomesrs74315478
hgdprs74315478
ensemblrs74315478
gopubmedrs74315478
geneviewrs74315478
scholarrs74315478
googlers74315478
pharmgkbrs74315478
gwascentralrs74315478
openSNPrs74315478
23andMers74315478
23andMe allrs74315478
SNP Nexus

SNPshotrs74315478
SNPdbers74315478
MSV3drs74315478
GWAS Ctlgrs74315478
Max Magnitude0
OMIM607574
Desc
Variant0035
Relatedalso
ClinVar
Risk rs74315478(A,T;A,T)
Alt rs74315478(A,T;A,T)
Reference rs74315478(C;C)
Significance Pathogenic
Disease Arylsulfatase a pseudodeficiency
Variation info
Gene ARSA
CLNDBN Arylsulfatase a pseudodeficiency, severe
Reversed 1
HGVS NC_000022.10:g.51064081G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003229.2,