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rs74315473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315473(C;T)
Make rs74315473(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626265
GeneARSA
is asnp
is mentioned by
dbSNPrs74315473
ebirs74315473
HLIrs74315473
Exacrs74315473
Varsomers74315473
Maprs74315473
PheGenIrs74315473
hapmaprs74315473
1000 genomesrs74315473
hgdprs74315473
ensemblrs74315473
gopubmedrs74315473
geneviewrs74315473
scholarrs74315473
googlers74315473
pharmgkbrs74315473
gwascentralrs74315473
openSNPrs74315473
23andMers74315473
23andMe allrs74315473
SNP Nexus

SNPshotrs74315473
SNPdbers74315473
MSV3drs74315473
GWAS Ctlgrs74315473
Max Magnitude0
OMIM607574
Desc
Variant0029
Relatedalso
ClinVar
Risk rs74315473(T;T)
Alt rs74315473(T;T)
Reference rs74315473(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064693G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003223.2,