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rs74315476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315476(C;T)
Make rs74315476(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625675
GeneARSA
is asnp
is mentioned by
dbSNPrs74315476
ebirs74315476
HLIrs74315476
Exacrs74315476
Varsomers74315476
Maprs74315476
PheGenIrs74315476
hapmaprs74315476
1000 genomesrs74315476
hgdprs74315476
ensemblrs74315476
gopubmedrs74315476
geneviewrs74315476
scholarrs74315476
googlers74315476
pharmgkbrs74315476
gwascentralrs74315476
openSNPrs74315476
23andMers74315476
23andMe allrs74315476
SNP Nexus

SNPshotrs74315476
SNPdbers74315476
MSV3drs74315476
GWAS Ctlgrs74315476
Max Magnitude0
OMIM607574
Desc
Variant0033
Relatedalso
ClinVar
Risk rs74315476(T;T)
Alt rs74315476(T;T)
Reference rs74315476(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064103G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003227.2, RCV000078933.4,