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rs121965030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965030(A;A)
Make rs121965030(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1002087
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965030
ebirs121965030
HLIrs121965030
Exacrs121965030
Varsomers121965030
Maprs121965030
PheGenIrs121965030
hapmaprs121965030
1000 genomesrs121965030
hgdprs121965030
ensemblrs121965030
gopubmedrs121965030
geneviewrs121965030
scholarrs121965030
googlers121965030
pharmgkbrs121965030
gwascentralrs121965030
openSNPrs121965030
23andMers121965030
23andMe allrs121965030
SNP Nexus

SNPshotrs121965030
SNPdbers121965030
MSV3drs121965030
GWAS Ctlgrs121965030
Max Magnitude0
OMIM252800
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121965030(A;A)
Alt rs121965030(A;A)
Reference rs121965030(G;G)
Significance Pathogenic
Disease IDUA pseudodeficiency
Variation info
Gene IDUA
CLNDBN IDUA pseudodeficiency
Reversed 0
HGVS NC_000004.11:g.995875G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012698.14,