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rs74315474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315474(A;A)
Make rs74315474(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626243
GeneARSA
is asnp
is mentioned by
dbSNPrs74315474
ebirs74315474
HLIrs74315474
Exacrs74315474
Varsomers74315474
Maprs74315474
PheGenIrs74315474
hapmaprs74315474
1000 genomesrs74315474
hgdprs74315474
ensemblrs74315474
gopubmedrs74315474
geneviewrs74315474
scholarrs74315474
googlers74315474
pharmgkbrs74315474
gwascentralrs74315474
openSNPrs74315474
23andMers74315474
23andMe allrs74315474
SNP Nexus

SNPshotrs74315474
SNPdbers74315474
MSV3drs74315474
GWAS Ctlgrs74315474
Max Magnitude0
OMIM607574
Desc
Variant0030
Relatedalso
ClinVar
Risk rs74315474(A;A)
Alt rs74315474(A;A)
Reference rs74315474(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe
Reversed 1
HGVS NC_000022.10:g.51064671G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003224.2,