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rs387906504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906504(G;G)
Make rs387906504(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1004391
GeneIDUA
is asnp
is mentioned by
dbSNPrs387906504
ebirs387906504
HLIrs387906504
Exacrs387906504
Varsomers387906504
Maprs387906504
PheGenIrs387906504
hapmaprs387906504
1000 genomesrs387906504
hgdprs387906504
ensemblrs387906504
gopubmedrs387906504
geneviewrs387906504
scholarrs387906504
googlers387906504
pharmgkbrs387906504
gwascentralrs387906504
openSNPrs387906504
23andMers387906504
23andMe allrs387906504
SNP Nexus

SNPshotrs387906504
SNPdbers387906504
MSV3drs387906504
GWAS Ctlgrs387906504
Max Magnitude0
ClinVar
Risk rs387906504(G;G)
Alt rs387906504(G;G)
Reference rs387906504(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis Mucopolysaccharidosis type 1
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.998179T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012695.15, RCV000208602.1,