rs1131691345, 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 Identification and functional analysis of novel THAP1 mutations. 21847143 2012
Dystonia 6, torsion (disorder)
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
0.700 GeneticVariation CLINVAR Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. 21520283 2011