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rs398123254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123254(C;C)
Make rs398123254(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1002945
GeneIDUA
is asnp
is mentioned by
dbSNPrs398123254
ebirs398123254
HLIrs398123254
Exacrs398123254
Varsomers398123254
Maprs398123254
PheGenIrs398123254
hapmaprs398123254
1000 genomesrs398123254
hgdprs398123254
ensemblrs398123254
gopubmedrs398123254
geneviewrs398123254
scholarrs398123254
googlers398123254
pharmgkbrs398123254
gwascentralrs398123254
openSNPrs398123254
23andMers398123254
23andMe allrs398123254
SNP Nexus

SNPshotrs398123254
SNPdbers398123254
MSV3drs398123254
GWAS Ctlgrs398123254
Max Magnitude0
ClinVar
Risk rs398123254(C;C)
Alt rs398123254(C;C)
Reference rs398123254(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.996733G>C
CLNSRC ClinVar
CLNACC RCV000078379.3, RCV000180476.1,