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rs199794428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199794428(A;G)
Make rs199794428(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1004393
GeneIDUA
is asnp
is mentioned by
dbSNPrs199794428
ebirs199794428
HLIrs199794428
Exacrs199794428
Varsomers199794428
Maprs199794428
PheGenIrs199794428
hapmaprs199794428
1000 genomesrs199794428
hgdprs199794428
ensemblrs199794428
gopubmedrs199794428
geneviewrs199794428
scholarrs199794428
googlers199794428
pharmgkbrs199794428
gwascentralrs199794428
openSNPrs199794428
23andMers199794428
23andMe allrs199794428
SNP Nexus

SNPshotrs199794428
SNPdbers199794428
MSV3drs199794428
GWAS Ctlgrs199794428
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199794428(G,T;G,T)
Alt rs199794428(G,T;G,T)
Reference rs199794428(A;A)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.998181A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012686.22,