rs1554599616, 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 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 CausalMutation CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009