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

rs121965033

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965033(G;G)
Make rs121965033(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1002333
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965033
ebirs121965033
HLIrs121965033
Exacrs121965033
Varsomers121965033
Maprs121965033
PheGenIrs121965033
hapmaprs121965033
1000 genomesrs121965033
hgdprs121965033
ensemblrs121965033
gopubmedrs121965033
geneviewrs121965033
scholarrs121965033
googlers121965033
pharmgkbrs121965033
gwascentralrs121965033
openSNPrs121965033
23andMers121965033
23andMe allrs121965033
SNP Nexus

SNPshotrs121965033
SNPdbers121965033
MSV3drs121965033
GWAS Ctlgrs121965033
Max Magnitude0
OMIM252800
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121965033(G;G)
Alt rs121965033(G;G)
Reference rs121965033(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis Hurler syndrome
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.996121T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012702.25, RCV000012703.15,