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rs74315470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315470(C;T)
Make rs74315470(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626709
GeneARSA
is asnp
is mentioned by
dbSNPrs74315470
ebirs74315470
HLIrs74315470
Exacrs74315470
Varsomers74315470
Maprs74315470
PheGenIrs74315470
hapmaprs74315470
1000 genomesrs74315470
hgdprs74315470
ensemblrs74315470
gopubmedrs74315470
geneviewrs74315470
scholarrs74315470
googlers74315470
pharmgkbrs74315470
gwascentralrs74315470
openSNPrs74315470
23andMers74315470
23andMe allrs74315470
SNP Nexus

SNPshotrs74315470
SNPdbers74315470
MSV3drs74315470
GWAS Ctlgrs74315470
Max Magnitude0
OMIM607574
Desc
Variant0025
Relatedalso
ClinVar
Risk rs74315470(T;T)
Alt rs74315470(T;T)
Reference rs74315470(C;C)
Significance Other
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065137G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003219.4,