rs2296793
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2296793(A;A) |
| Make rs2296793(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 129822779 |
| Gene | TOR1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2296793 |
| dbSNP (classic) | rs2296793 |
| ClinGen | rs2296793 |
| ebi | rs2296793 |
| HLI | rs2296793 |
| Exac | rs2296793 |
| Gnomad | rs2296793 |
| Varsome | rs2296793 |
| LitVar | rs2296793 |
| Map | rs2296793 |
| PheGenI | rs2296793 |
| Biobank | rs2296793 |
| 1000 genomes | rs2296793 |
| hgdp | rs2296793 |
| ensembl | rs2296793 |
| geneview | rs2296793 |
| scholar | rs2296793 |
| rs2296793 | |
| pharmgkb | rs2296793 |
| gwascentral | rs2296793 |
| openSNP | rs2296793 |
| 23andMe | rs2296793 |
| SNPshot | rs2296793 |
| SNPdbe | rs2296793 |
| MSV3d | rs2296793 |
| GWAS Ctlg | rs2296793 |
| GMAF | 0.2374 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17130424] After adjusting for age, sex, and their interaction, a strong association between dystonia and two SNPs, rs13283584 and rs1182 was observed.
[PMID 17503336
] Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
[PMID 23460578] Is TOR1A a risk factor in adult-onset primary torsion dystonia?
| ClinVar | |
|---|---|
| Risk | rs2296793(A;A) |
| Alt | rs2296793(A;A) |
| Reference | Rs2296793(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Dystonia 1 |
| Variation | info |
| Gene | TOR1A |
| CLNDBN | not specified Dystonia 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.132585058G>A |
| CLNSRC | |
| CLNACC | RCV000242539.1, RCV000298379.1, |
