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rs869025584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025584(C;C)
Make rs869025584(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position1001742
GeneIDUA
is asnp
is mentioned by
dbSNPrs869025584
dbSNP (classic)rs869025584
ClinGenrs869025584
ebirs869025584
HLIrs869025584
Exacrs869025584
Gnomadrs869025584
Varsomers869025584
LitVarrs869025584
Maprs869025584
PheGenIrs869025584
Biobankrs869025584
1000 genomesrs869025584
hgdprs869025584
ensemblrs869025584
geneviewrs869025584
scholarrs869025584
googlers869025584
pharmgkbrs869025584
gwascentralrs869025584
openSNPrs869025584
23andMers869025584
SNPshotrs869025584
SNPdbers869025584
MSV3drs869025584
GWAS Ctlgrs869025584
Max Magnitude0
ClinVar
Risk rs869025584(C;C)
Alt rs869025584(C;C)
Reference Rs869025584(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis type I
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis type I
Reversed 0
HGVS NC_000004.11:g.995530T>C
CLNSRC
CLNACC RCV000208593.1,