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rs727503967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 3 Carrier of a mucopolysaccharidosis type 1 mutation
(G;G) 0 common in clinvar


Make rs727503967(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1003434
GeneIDUA
is asnp
is mentioned by
dbSNPrs727503967
dbSNP (classic)rs727503967
ClinGenrs727503967
ebirs727503967
HLIrs727503967
Exacrs727503967
Gnomadrs727503967
Varsomers727503967
LitVarrs727503967
Maprs727503967
PheGenIrs727503967
Biobankrs727503967
1000 genomesrs727503967
hgdprs727503967
ensemblrs727503967
geneviewrs727503967
scholarrs727503967
googlers727503967
pharmgkbrs727503967
gwascentralrs727503967
openSNPrs727503967
23andMers727503967
SNPshotrs727503967
SNPdbers727503967
MSV3drs727503967
GWAS Ctlgrs727503967
Max Magnitude3
ClinVar
Risk rs727503967(-;-)
Alt rs727503967(-;-)
Reference Rs727503967(G;G)
Significance Pathogenic
Disease not provided Hurler syndrome
Variation info
Gene IDUA
CLNDBN not provided Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.997222delG
CLNSRC HGMD
CLNACC RCV000153377.2, RCV000173986.1,