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rs121965021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965021(C;G)
Make rs121965021(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1003418
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965021
ebirs121965021
HLIrs121965021
Exacrs121965021
Varsomers121965021
Maprs121965021
PheGenIrs121965021
hapmaprs121965021
1000 genomesrs121965021
hgdprs121965021
ensemblrs121965021
gopubmedrs121965021
geneviewrs121965021
scholarrs121965021
googlers121965021
pharmgkbrs121965021
gwascentralrs121965021
openSNPrs121965021
23andMers121965021
23andMe allrs121965021
SNP Nexus

SNPshotrs121965021
SNPdbers121965021
MSV3drs121965021
GWAS Ctlgrs121965021
Max Magnitude0
OMIM252800
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121965021(G;G)
Alt rs121965021(G;G)
Reference rs121965021(C;C)
Significance Pathogenic
Disease Hurler syndrome Mucopolysaccharidosis type 1
Variation info
Gene IDUA
CLNDBN Hurler syndrome Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.997206C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012685.16, RCV000208595.1,