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rs121965026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965026(C;C)
Make rs121965026(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1003108
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965026
ebirs121965026
HLIrs121965026
Exacrs121965026
Varsomers121965026
Maprs121965026
PheGenIrs121965026
hapmaprs121965026
1000 genomesrs121965026
hgdprs121965026
ensemblrs121965026
gopubmedrs121965026
geneviewrs121965026
scholarrs121965026
googlers121965026
pharmgkbrs121965026
gwascentralrs121965026
openSNPrs121965026
23andMers121965026
23andMe allrs121965026
SNP Nexus

SNPshotrs121965026
SNPdbers121965026
MSV3drs121965026
GWAS Ctlgrs121965026
Max Magnitude0
OMIM252800
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121965026(C;C)
Alt rs121965026(C;C)
Reference rs121965026(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-S
Reversed 0
HGVS NC_000004.11:g.996896G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012693.25,