Have questions? Visit https://www.reddit.com/r/SNPedia

rs1141608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1141608(C;T)
Make rs1141608(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149501018
GeneIDS
is asnp
is mentioned by
dbSNPrs1141608
ebirs1141608
HLIrs1141608
Exacrs1141608
Varsomers1141608
Maprs1141608
PheGenIrs1141608
hapmaprs1141608
1000 genomesrs1141608
hgdprs1141608
ensemblrs1141608
gopubmedrs1141608
geneviewrs1141608
scholarrs1141608
googlers1141608
pharmgkbrs1141608
gwascentralrs1141608
openSNPrs1141608
23andMers1141608
23andMe allrs1141608
SNP Nexus

SNPshotrs1141608
SNPdbers1141608
MSV3drs1141608
GWAS Ctlgrs1141608
GMAF0.2346
Max Magnitude0

[PMID 20104590] Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in hunter syndrome

? (C;C) (C;T) (T;T)
[PMID 18097474OA-icon.png] No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.


ClinVar
Risk rs1141608(T;T)
Alt rs1141608(T;T)
Reference rs1141608(C;C)
Significance Non-pathogenic
Disease not specified Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not specified Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148582549G>A
CLNSRC ClinVar Emory University
CLNACC RCV000078365.4, RCV000206047.1,