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rs794726877

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726877(A;A)
Make rs794726877(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position987236
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs794726877
dbSNP (classic)rs794726877
ClinGenrs794726877
ebirs794726877
HLIrs794726877
Exacrs794726877
Gnomadrs794726877
Varsomers794726877
LitVarrs794726877
Maprs794726877
PheGenIrs794726877
Biobankrs794726877
1000 genomesrs794726877
hgdprs794726877
ensemblrs794726877
geneviewrs794726877
scholarrs794726877
googlers794726877
pharmgkbrs794726877
gwascentralrs794726877
openSNPrs794726877
23andMers794726877
SNPshotrs794726877
SNPdbers794726877
MSV3drs794726877
GWAS Ctlgrs794726877
Max Magnitude0
ClinVar
Risk rs794726877(A;A)
Alt rs794726877(A;A)
Reference Rs794726877(G;G)
Significance Pathogenic
Disease Hurler syndrome Mucopolysaccharidosis type I
Variation info
Gene SLC26A1 IDUA
CLNDBN Hurler syndrome Mucopolysaccharidosis type I
Reversed 0
HGVS NC_000004.11:g.981024G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000173082.1, RCV000208594.1,