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rs121965027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965027(C;C)
Make rs121965027(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1003102
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965027
ebirs121965027
HLIrs121965027
Exacrs121965027
Varsomers121965027
Maprs121965027
PheGenIrs121965027
hapmaprs121965027
1000 genomesrs121965027
hgdprs121965027
ensemblrs121965027
gopubmedrs121965027
geneviewrs121965027
scholarrs121965027
googlers121965027
pharmgkbrs121965027
gwascentralrs121965027
openSNPrs121965027
23andMers121965027
23andMe allrs121965027
SNP Nexus

SNPshotrs121965027
SNPdbers121965027
MSV3drs121965027
GWAS Ctlgrs121965027
Max Magnitude0
OMIM252800
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121965027(C;C)
Alt rs121965027(C;C)
Reference rs121965027(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided Hurler syndrome
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S not provided Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.996890T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012694.21, RCV000078381.3, RCV000173657.1,