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rs74315462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315462(C;T)
Make rs74315462(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627218
GeneARSA
is asnp
is mentioned by
dbSNPrs74315462
ebirs74315462
HLIrs74315462
Exacrs74315462
Varsomers74315462
Maprs74315462
PheGenIrs74315462
hapmaprs74315462
1000 genomesrs74315462
hgdprs74315462
ensemblrs74315462
gopubmedrs74315462
geneviewrs74315462
scholarrs74315462
googlers74315462
pharmgkbrs74315462
gwascentralrs74315462
openSNPrs74315462
23andMers74315462
23andMe allrs74315462
SNP Nexus

SNPshotrs74315462
SNPdbers74315462
MSV3drs74315462
GWAS Ctlgrs74315462
Max Magnitude0
OMIM607574
Desc
Variant0016
Relatedalso
ClinVar
Risk rs74315462(T;T)
Alt rs74315462(T;T)
Reference rs74315462(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe
Reversed 1
HGVS NC_000022.10:g.51065646G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003210.2,