rs1801968, TOR1A

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.020 GeneticVariation BEFREE In addition, we found no association of rs1801968 with dystonia. 26940431 2017
Dystonia
CUI: C0013421
Disease: Dystonia
0.020 GeneticVariation BEFREE In addition, we found no association of rs1801968 with dystonia. 26940431 2017
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.020 GeneticVariation BEFREE However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02). 23460578 2013
Dystonia
CUI: C0013421
Disease: Dystonia
0.020 GeneticVariation BEFREE However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02). 23460578 2013
Dystonia, Primary
CUI: C0752203
Disease: Dystonia, Primary
0.020 GeneticVariation BEFREE The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. 23405979 2013
Dystonia, Primary
CUI: C0752203
Disease: Dystonia, Primary
0.020 GeneticVariation BEFREE Our findings do not confirm that the allele contributes to the risk of D216H SNP primary dystonia. 22054283 2012
Organic writer's cramp
CUI: C0154676
Disease: Organic writer's cramp
0.010 GeneticVariation BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261 2017
Focal Dystonia
CUI: C0743332
Disease: Focal Dystonia
0.010 GeneticVariation BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261 2017
Writer's Cramp
CUI: C4316810
Disease: Writer's Cramp
0.010 GeneticVariation BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261 2017
Segmental dystonia
CUI: C1997740
Disease: Segmental dystonia
0.010 GeneticVariation BEFREE In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort. 20669276 2010