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rs794727240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs794727240(-;-)
Make rs794727240(-;AC)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position987841
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs794727240
dbSNP (classic)rs794727240
ClinGenrs794727240
ebirs794727240
HLIrs794727240
Exacrs794727240
Gnomadrs794727240
Varsomers794727240
LitVarrs794727240
Maprs794727240
PheGenIrs794727240
Biobankrs794727240
1000 genomesrs794727240
hgdprs794727240
ensemblrs794727240
geneviewrs794727240
scholarrs794727240
googlers794727240
pharmgkbrs794727240
gwascentralrs794727240
openSNPrs794727240
23andMers794727240
SNPshotrs794727240
SNPdbers794727240
MSV3drs794727240
GWAS Ctlgrs794727240
Max Magnitude0
ClinVar
Risk rs794727240(-;-)
Alt rs794727240(-;-)
Reference Rs794727240(AC;AC)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene SLC26A1 IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.981629_981630delAC
CLNSRC
CLNACC RCV000175553.1,