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rs121965025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965025(C;T)
Make rs121965025(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1004292
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965025
dbSNP (classic)rs121965025
ClinGenrs121965025
ebirs121965025
HLIrs121965025
Exacrs121965025
Gnomadrs121965025
Varsomers121965025
LitVarrs121965025
Maprs121965025
PheGenIrs121965025
Biobankrs121965025
1000 genomesrs121965025
hgdprs121965025
ensemblrs121965025
geneviewrs121965025
scholarrs121965025
googlers121965025
pharmgkbrs121965025
gwascentralrs121965025
openSNPrs121965025
23andMers121965025
SNPshotrs121965025
SNPdbers121965025
MSV3drs121965025
GWAS Ctlgrs121965025
Max Magnitude0
OMIM252800
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121965025(G;G) rs121965025(T;T)
Alt rs121965025(G;G) rs121965025(T;T)
Reference Rs121965025(C;C)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.998080C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012692.21,