rs1801968
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1801968(C;C) |
| Make rs1801968(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 129818622 |
| Gene | TOR1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801968 |
| dbSNP (classic) | rs1801968 |
| ClinGen | rs1801968 |
| ebi | rs1801968 |
| HLI | rs1801968 |
| Exac | rs1801968 |
| Gnomad | rs1801968 |
| Varsome | rs1801968 |
| LitVar | rs1801968 |
| Map | rs1801968 |
| PheGenI | rs1801968 |
| Biobank | rs1801968 |
| 1000 genomes | rs1801968 |
| hgdp | rs1801968 |
| ensembl | rs1801968 |
| geneview | rs1801968 |
| scholar | rs1801968 |
| rs1801968 | |
| pharmgkb | rs1801968 |
| gwascentral | rs1801968 |
| openSNP | rs1801968 |
| 23andMe | rs1801968 |
| SNPshot | rs1801968 |
| SNPdbe | rs1801968 |
| MSV3d | rs1801968 |
| GWAS Ctlg | rs1801968 |
| GMAF | 0.07759 |
| Max Magnitude | 0 |
aka c.646G>C (p.Asp216His or D216H)
This variant is reported to be a modifier of the TOR1A variant, rs80358233. Specifically, the 216H allele (c.646C) appears to reduce the odds of developing torsion dystonia in rs80358233(-;GAG) carriers, while the 216D allele appears to increase the odds.[PMID 16537570],[PMID 18519876],[PMID 17503336
]
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22054283] Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort
| ClinVar | |
|---|---|
| Risk | rs1801968(A;A) rs1801968(C;C) |
| Alt | rs1801968(A;A) rs1801968(C;C) |
| Reference | Rs1801968(G;G) |
| Significance | Other |
| Disease | Dystonia 1 Dystonia 1 not specified |
| Variation | info |
| Gene | TOR1A |
| CLNDBN | Dystonia 1, torsion, modifier of Dystonia 1 not specified |
| Reversed | 1 |
| HGVS | NC_000009.11:g.132580901C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005490.4, RCV000020122.2, RCV000178043.2, |
[PMID 17503336] Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
[PMID 19260107] The p.Asp216His TOR1A allele effect is not found in the French population.
[PMID 20669276] Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
[PMID 9288096] The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
[PMID 11523564] Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
[PMID 18519876] Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.
[PMID 23405979] Analysis of D216H polymorphism in Argentinean patients with primary dystonia.
[PMID 23460578] Is TOR1A a risk factor in adult-onset primary torsion dystonia?
