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rs74315475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315475(A;T)
Make rs74315475(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626033
GeneARSA
is asnp
is mentioned by
dbSNPrs74315475
ebirs74315475
HLIrs74315475
Exacrs74315475
Varsomers74315475
Maprs74315475
PheGenIrs74315475
hapmaprs74315475
1000 genomesrs74315475
hgdprs74315475
ensemblrs74315475
gopubmedrs74315475
geneviewrs74315475
scholarrs74315475
googlers74315475
pharmgkbrs74315475
gwascentralrs74315475
openSNPrs74315475
23andMers74315475
23andMe allrs74315475
SNP Nexus

SNPshotrs74315475
SNPdbers74315475
MSV3drs74315475
GWAS Ctlgrs74315475
Max Magnitude0
OMIM607574
Desc
Variant0032
Relatedalso
ClinVar
Risk rs74315475(T;T)
Alt rs74315475(T;T)
Reference rs74315475(A;A)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064461T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003226.2, RCV000169024.1,