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rs173356864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs173356864(C;C)
Make rs173356864(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1003628
GeneIDUA
is asnp
is mentioned by
dbSNPrs173356864
ebirs173356864
HLIrs173356864
Exacrs173356864
Varsomers173356864
Maprs173356864
PheGenIrs173356864
hapmaprs173356864
1000 genomesrs173356864
hgdprs173356864
ensemblrs173356864
gopubmedrs173356864
geneviewrs173356864
scholarrs173356864
googlers173356864
pharmgkbrs173356864
gwascentralrs173356864
openSNPrs173356864
23andMers173356864
23andMe allrs173356864
SNP Nexus

SNPshotrs173356864
SNPdbers173356864
MSV3drs173356864
GWAS Ctlgrs173356864
Max Magnitude0
ClinVar
Risk rs173356864(C;C)
Alt rs173356864(C;C)
Reference rs173356864(G;G)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.997416G>C
CLNSRC
CLNACC


[PMID 21831683] A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.