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rs121965032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965032(C;T)
Make rs121965032(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1002387
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965032
ebirs121965032
HLIrs121965032
Exacrs121965032
Varsomers121965032
Maprs121965032
PheGenIrs121965032
hapmaprs121965032
1000 genomesrs121965032
hgdprs121965032
ensemblrs121965032
gopubmedrs121965032
geneviewrs121965032
scholarrs121965032
googlers121965032
pharmgkbrs121965032
gwascentralrs121965032
openSNPrs121965032
23andMers121965032
23andMe allrs121965032
SNP Nexus

SNPshotrs121965032
SNPdbers121965032
MSV3drs121965032
GWAS Ctlgrs121965032
Max Magnitude0
OMIM252800
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121965032(T;T)
Alt rs121965032(T;T)
Reference rs121965032(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S
Reversed 0
HGVS NC_000004.11:g.996175C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012700.23,