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rs875989947

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs875989947(-;-)
Make rs875989947(-;CTGC)
Make rs875989947(CTGC;CTGC)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position1001704
GeneIDUA
is asnp
is mentioned by
dbSNPrs875989947
ebirs875989947
HLIrs875989947
Exacrs875989947
Varsomers875989947
Maprs875989947
PheGenIrs875989947
hapmaprs875989947
1000 genomesrs875989947
hgdprs875989947
ensemblrs875989947
gopubmedrs875989947
geneviewrs875989947
scholarrs875989947
googlers875989947
pharmgkbrs875989947
gwascentralrs875989947
openSNPrs875989947
23andMers875989947
23andMe allrs875989947
SNP Nexus

SNPshotrs875989947
SNPdbers875989947
MSV3drs875989947
GWAS Ctlgrs875989947
Max Magnitude0
ClinVar
Risk rs875989947(TGCC;TGCC)
Alt rs875989947(TGCC;TGCC)
Reference rs875989947(;)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.995489_995492dupCTGC
CLNSRC Shahid Beheshti University of Medical Sciences
CLNACC RCV000211625.1,