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rs398123259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123259(G;T)
Make rs398123259(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position987950
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs398123259
ebirs398123259
HLIrs398123259
Exacrs398123259
Varsomers398123259
Maprs398123259
PheGenIrs398123259
hapmaprs398123259
1000 genomesrs398123259
hgdprs398123259
ensemblrs398123259
gopubmedrs398123259
geneviewrs398123259
scholarrs398123259
googlers398123259
pharmgkbrs398123259
gwascentralrs398123259
openSNPrs398123259
23andMers398123259
23andMe allrs398123259
SNP Nexus

SNPshotrs398123259
SNPdbers398123259
MSV3drs398123259
GWAS Ctlgrs398123259
Max Magnitude0
ClinVar
Risk rs398123259(T;T)
Alt rs398123259(T;T)
Reference rs398123259(G;G)
Significance Pathogenic
Disease not provided Hurler syndrome
Variation info
Gene SLC26A1 IDUA
CLNDBN not provided Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.981738G>T
CLNSRC ClinVar
CLNACC RCV000078389.3, RCV000175551.1,