rs1563644810, THAP1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dystonia 6, torsion (disorder)
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
0.700 CausalMutation CLINVAR Persistent chorea in DYT6, due to anticholinergic therapy. 26275586 2015
Dystonia 6, torsion (disorder)
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
0.700 CausalMutation CLINVAR Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. 21110056 2011