rs1563646198, THAP1

N. diseases: 1
Disease: Dystonia 6, torsion (disorder) ×
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 GeneticVariation CLINVAR Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 26486352 2015
Dystonia 6, torsion (disorder)
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
0.700 GeneticVariation CLINVAR Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 24976531 2014
Dystonia 6, torsion (disorder)
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
0.700 GeneticVariation CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009