rs1182
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1182(A;A) |
| Make rs1182(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 129813781 |
| Gene | TOR1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1182 |
| dbSNP (classic) | rs1182 |
| ClinGen | rs1182 |
| ebi | rs1182 |
| HLI | rs1182 |
| Exac | rs1182 |
| Gnomad | rs1182 |
| Varsome | rs1182 |
| LitVar | rs1182 |
| Map | rs1182 |
| PheGenI | rs1182 |
| Biobank | rs1182 |
| 1000 genomes | rs1182 |
| hgdp | rs1182 |
| ensembl | rs1182 |
| geneview | rs1182 |
| scholar | rs1182 |
| rs1182 | |
| pharmgkb | rs1182 |
| gwascentral | rs1182 |
| openSNP | rs1182 |
| 23andMe | rs1182 |
| SNPshot | rs1182 |
| SNPdbe | rs1182 |
| MSV3d | rs1182 |
| GWAS Ctlg | rs1182 |
| GMAF | 0.1823 |
| Max Magnitude | 0 |
[PMID 17130424] After adjusting for age, sex, and their interaction, a strong association between dystonia and two SNPs, rs13283584 and rs1182 was observed.
[PMID 19202559
] The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
[PMID 23058565] Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population
[PMID 23460578] Is TOR1A a risk factor in adult-onset primary torsion dystonia?
| ClinVar | |
|---|---|
| Risk | rs1182(A;A) |
| Alt | rs1182(A;A) |
| Reference | Rs1182(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Dystonia 1 |
| Variation | info |
| Gene | TOR1A |
| CLNDBN | Dystonia 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.132576060C>A |
| CLNSRC | |
| CLNACC | RCV000380689.1, |
