Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs1563644810
rs1563644810
THAP1
C 0.700 CausalMutation CLINVAR Persistent chorea in DYT6, due to anticholinergic therapy. 26275586

2015
dbSNP: rs1563646198
rs1563646198
THAP1
G 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
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs1554599616
rs1554599616
THAP1
A 0.700 CausalMutation CLINVAR Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 24976531

2014
dbSNP: rs1563646198
rs1563646198
THAP1
G 0.700 GeneticVariation CLINVAR Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 24976531

2014
dbSNP: rs1131691345
rs1131691345
THAP1
A 0.700 GeneticVariation CLINVAR Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012