Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320

2009
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320

2009
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs138918468
rs138918468
THAP1
0.700 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs1554599616
rs1554599616
THAP1
A 0.700 CausalMutation CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs1563644456
rs1563644456
THAP1
TG 0.700 CausalMutation CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs1563646198
rs1563646198
THAP1
G 0.700 GeneticVariation CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320

2009
dbSNP: rs372080941
rs372080941
THAP1
0.700 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320

2009
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs759392096
rs759392096
THAP1
0.700 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320

2009
dbSNP: rs769988455
rs769988455
THAP1
0.700 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 20211909

2010
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Adult-onset leg dystonia due to a missense mutation in THAP1. 20629133

2010
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Prevalence of THAP1 sequence variants in German patients with primary dystonia. 20669277

2010