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rs794727701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727701(C;C)
Make rs794727701(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position1001467
GeneIDUA
is asnp
is mentioned by
dbSNPrs794727701
dbSNP (classic)rs794727701
ClinGenrs794727701
ebirs794727701
HLIrs794727701
Exacrs794727701
Gnomadrs794727701
Varsomers794727701
LitVarrs794727701
Maprs794727701
PheGenIrs794727701
Biobankrs794727701
1000 genomesrs794727701
hgdprs794727701
ensemblrs794727701
geneviewrs794727701
scholarrs794727701
googlers794727701
pharmgkbrs794727701
gwascentralrs794727701
openSNPrs794727701
23andMers794727701
SNPshotrs794727701
SNPdbers794727701
MSV3drs794727701
GWAS Ctlgrs794727701
Max Magnitude0
ClinVar
Risk rs794727701(C;C)
Alt rs794727701(C;C)
Reference Rs794727701(G;G)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.995255G>C
CLNSRC
CLNACC RCV000178734.1,