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rs398123260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGCTCCTGGCCT;CGCTCCTGGCCT) 0 common in clinvar
(TCGCTCCTGGCC;TCGCTCCTGGCC) 0 common in clinvar
Make rs398123260(-;-)
Make rs398123260(-;TCGCTCCTGGCC)
ReferenceGRCh38 38.1/141
Chromosome4
Position987130
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs398123260
ebirs398123260
HLIrs398123260
Exacrs398123260
Varsomers398123260
Maprs398123260
PheGenIrs398123260
hapmaprs398123260
1000 genomesrs398123260
hgdprs398123260
ensemblrs398123260
gopubmedrs398123260
geneviewrs398123260
scholarrs398123260
googlers398123260
pharmgkbrs398123260
gwascentralrs398123260
openSNPrs398123260
23andMers398123260
23andMe allrs398123260
SNP Nexus

SNPshotrs398123260
SNPdbers398123260
MSV3drs398123260
GWAS Ctlgrs398123260
Max Magnitude0
ClinVar
Risk rs398123260(;)
Alt rs398123260(;)
Reference rs398123260(CGCTCCTGGCCT;CGCTCCTGGCCT)
Significance Pathogenic
Disease not provided Hurler syndrome Mucopolysaccharidosis type 1
Variation info
Gene SLC26A1 IDUA
CLNDBN not provided Hurler syndrome Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.980918_980929delTCGCTCCTGGCC
CLNSRC HGMD
CLNACC RCV000078393.3, RCV000173083.1, RCV000208599.1,