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rs794727017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727017(C;G)
Make rs794727017(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position1003349
GeneIDUA
is asnp
is mentioned by
dbSNPrs794727017
dbSNP (classic)rs794727017
ClinGenrs794727017
ebirs794727017
HLIrs794727017
Exacrs794727017
Gnomadrs794727017
Varsomers794727017
LitVarrs794727017
Maprs794727017
PheGenIrs794727017
Biobankrs794727017
1000 genomesrs794727017
hgdprs794727017
ensemblrs794727017
geneviewrs794727017
scholarrs794727017
googlers794727017
pharmgkbrs794727017
gwascentralrs794727017
openSNPrs794727017
23andMers794727017
SNPshotrs794727017
SNPdbers794727017
MSV3drs794727017
GWAS Ctlgrs794727017
Max Magnitude0
ClinVar
Risk rs794727017(G;G) rs794727017(T;T)
Alt rs794727017(G;G) rs794727017(T;T)
Reference Rs794727017(C;C)
Significance Probable-Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.997137C>G
CLNSRC
CLNACC RCV000173985.1,