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rs121965019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965019(A;A)
Make rs121965019(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1002747
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965019
ebirs121965019
HLIrs121965019
Exacrs121965019
Varsomers121965019
Maprs121965019
PheGenIrs121965019
hapmaprs121965019
1000 genomesrs121965019
hgdprs121965019
ensemblrs121965019
gopubmedrs121965019
geneviewrs121965019
scholarrs121965019
googlers121965019
pharmgkbrs121965019
gwascentralrs121965019
openSNPrs121965019
23andMers121965019
23andMe allrs121965019
SNP Nexus

SNPshotrs121965019
SNPdbers121965019
MSV3drs121965019
GWAS Ctlgrs121965019
Max Magnitude0
OMIM252800
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121965019(A;A)
Alt rs121965019(A;A)
Reference rs121965019(G;G)
Significance Pathogenic
Disease Hurler syndrome not provided Mucopolysaccharidosis type 1
Variation info
Gene IDUA
CLNDBN Hurler syndrome not provided Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.996535G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012683.27, RCV000078374.3, RCV000208609.1,