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rs74315480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315480(C;T)
Make rs74315480(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625615
GeneARSA
is asnp
is mentioned by
dbSNPrs74315480
ebirs74315480
HLIrs74315480
Exacrs74315480
Varsomers74315480
Maprs74315480
PheGenIrs74315480
hapmaprs74315480
1000 genomesrs74315480
hgdprs74315480
ensemblrs74315480
gopubmedrs74315480
geneviewrs74315480
scholarrs74315480
googlers74315480
pharmgkbrs74315480
gwascentralrs74315480
openSNPrs74315480
23andMers74315480
23andMe allrs74315480
SNP Nexus

SNPshotrs74315480
SNPdbers74315480
MSV3drs74315480
GWAS Ctlgrs74315480
Max Magnitude0
OMIM607574
Desc
Variant0037
Relatedalso
ClinVar
Risk rs74315480(G,T;G,T)
Alt rs74315480(G,T;G,T)
Reference rs74315480(C;C)
Significance Other
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064043G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003231.4,