Have questions? Visit https://www.reddit.com/r/SNPedia

rs121965023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965023(C;T)
Make rs121965023(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1002117
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965023
ebirs121965023
HLIrs121965023
Exacrs121965023
Varsomers121965023
Maprs121965023
PheGenIrs121965023
hapmaprs121965023
1000 genomesrs121965023
hgdprs121965023
ensemblrs121965023
gopubmedrs121965023
geneviewrs121965023
scholarrs121965023
googlers121965023
pharmgkbrs121965023
gwascentralrs121965023
openSNPrs121965023
23andMers121965023
23andMe allrs121965023
SNP Nexus

SNPshotrs121965023
SNPdbers121965023
MSV3drs121965023
GWAS Ctlgrs121965023
Max Magnitude0
OMIM252800
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121965023(T;T)
Alt rs121965023(T;T)
Reference rs121965023(C;C)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.995905C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012690.16,