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rs875989946

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs875989946(C;C)
Make rs875989946(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position1001497
GeneIDUA
is asnp
is mentioned by
dbSNPrs875989946
ebirs875989946
HLIrs875989946
Exacrs875989946
Varsomers875989946
Maprs875989946
PheGenIrs875989946
hapmaprs875989946
1000 genomesrs875989946
hgdprs875989946
ensemblrs875989946
gopubmedrs875989946
geneviewrs875989946
scholarrs875989946
googlers875989946
pharmgkbrs875989946
gwascentralrs875989946
openSNPrs875989946
23andMers875989946
23andMe allrs875989946
SNP Nexus

SNPshotrs875989946
SNPdbers875989946
MSV3drs875989946
GWAS Ctlgrs875989946
Max Magnitude0
ClinVar
Risk rs875989946(C;C)
Alt rs875989946(C;C)
Reference rs875989946(T;T)
Significance Probable-Pathogenic
Disease Hurler syndrome
Variation info
Gene IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.995285T>C
CLNSRC Shahid Beheshti University of Medical Sciences
CLNACC RCV000211578.1,