rs1141608
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1141608(C;T) |
| Make rs1141608(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 149501018 |
| Gene | IDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1141608 |
| dbSNP (classic) | rs1141608 |
| ClinGen | rs1141608 |
| ebi | rs1141608 |
| HLI | rs1141608 |
| Exac | rs1141608 |
| Gnomad | rs1141608 |
| Varsome | rs1141608 |
| LitVar | rs1141608 |
| Map | rs1141608 |
| PheGenI | rs1141608 |
| Biobank | rs1141608 |
| 1000 genomes | rs1141608 |
| hgdp | rs1141608 |
| ensembl | rs1141608 |
| geneview | rs1141608 |
| scholar | rs1141608 |
| rs1141608 | |
| pharmgkb | rs1141608 |
| gwascentral | rs1141608 |
| openSNP | rs1141608 |
| 23andMe | rs1141608 |
| SNPshot | rs1141608 |
| SNPdbe | rs1141608 |
| MSV3d | rs1141608 |
| GWAS Ctlg | rs1141608 |
| GMAF | 0.2346 |
| Max Magnitude | 0 |
[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 18097474
] 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 | RCV000078365.5, RCV000206047.1, |
