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rs121965028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGA;TGA) 0 common in clinvar
Make rs121965028(-;-)
Make rs121965028(-;TGA)
ReferenceGRCh38 38.1/141
Chromosome4
Position1004391
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965028
ebirs121965028
HLIrs121965028
Exacrs121965028
Varsomers121965028
Maprs121965028
PheGenIrs121965028
hapmaprs121965028
1000 genomesrs121965028
hgdprs121965028
ensemblrs121965028
gopubmedrs121965028
geneviewrs121965028
scholarrs121965028
googlers121965028
pharmgkbrs121965028
gwascentralrs121965028
openSNPrs121965028
23andMers121965028
23andMe allrs121965028
SNP Nexus

SNPshotrs121965028
SNPdbers121965028
MSV3drs121965028
GWAS Ctlgrs121965028
Max Magnitude0
OMIM252800
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121965028(;)
Alt rs121965028(;)
Reference rs121965028(TGA;TGA)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S
Reversed 0
HGVS NC_000004.11:g.998179_998181delTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012695.13,