Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139

2012
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs118204013
rs118204013
THAP1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. 21425341

2011
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Homozygous THAP1 mutations as cause of early-onset generalized dystonia. 21425335

2011
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 21839475

2011