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rs794727840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727840(A;A)
Make rs794727840(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position1002162
GeneIDUA
is asnp
is mentioned by
dbSNPrs794727840
dbSNP (classic)rs794727840
ClinGenrs794727840
ebirs794727840
HLIrs794727840
Exacrs794727840
Gnomadrs794727840
Varsomers794727840
LitVarrs794727840
Maprs794727840
PheGenIrs794727840
Biobankrs794727840
1000 genomesrs794727840
hgdprs794727840
ensemblrs794727840
geneviewrs794727840
scholarrs794727840
googlers794727840
pharmgkbrs794727840
gwascentralrs794727840
openSNPrs794727840
23andMers794727840
SNPshotrs794727840
SNPdbers794727840
MSV3drs794727840
GWAS Ctlgrs794727840
Max Magnitude0
ClinVar
Risk rs794727840(A;A)
Alt rs794727840(A;A)
Reference Rs794727840(G;G)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.995950G>A
CLNSRC
CLNACC RCV000179734.1,