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rs74315468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315468(C;T)
Make rs74315468(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626841
GeneARSA
is asnp
is mentioned by
dbSNPrs74315468
dbSNP (old)rs74315468
ClinGenrs74315468
ebirs74315468
HLIrs74315468
Exacrs74315468
Varsomers74315468
Maprs74315468
PheGenIrs74315468
Biobankrs74315468
1000 genomesrs74315468
hgdprs74315468
ensemblrs74315468
gopubmedrs74315468
geneviewrs74315468
scholarrs74315468
googlers74315468
pharmgkbrs74315468
gwascentralrs74315468
openSNPrs74315468
23andMers74315468
23andMe allrs74315468
SNP Nexus

SNPshotrs74315468
SNPdbers74315468
MSV3drs74315468
GWAS Ctlgrs74315468
Max Magnitude0
OMIM607574
Desc
Variant0023
Relatedalso
ClinVar
Risk rs74315468(T;T)
Alt rs74315468(T;T)
Reference Rs74315468(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy not specified
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy not specified
Reversed 1
HGVS NC_000022.10:g.51065269G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003217.3, RCV000343115.1,