Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204013
rs118204013
THAP1
G 0.800 CausalMutation CLINVAR

dbSNP: rs267607111
rs267607111
THAP1
C 0.800 CausalMutation CLINVAR

dbSNP: rs267607112
rs267607112
THAP1
A 0.800 CausalMutation CLINVAR

dbSNP: rs387907176
rs387907176
THAP1
C 0.800 CausalMutation CLINVAR

dbSNP: rs387907177
rs387907177
THAP1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1064797344
rs1064797344
THAP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554599712
rs1554599712
THAP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs377725442
rs377725442
THAP1
0.700 GeneticVariation UNIPROT

dbSNP: rs766483829
rs766483829
THAP1
0.700 GeneticVariation UNIPROT

dbSNP: rs767952378
rs767952378
THAP1
0.700 GeneticVariation UNIPROT

dbSNP: rs768017019
rs768017019
THAP1
0.700 GeneticVariation UNIPROT

dbSNP: rs950435041
rs950435041
THAP1
0.700 GeneticVariation UNIPROT

dbSNP: rs267607111
rs267607111
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: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs267607111
rs267607111
THAP1
0.800 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs267607112
rs267607112
THAP1
0.800 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs267607112
rs267607112
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: rs387907176
rs387907176
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: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs387907177
rs387907177
THAP1
0.800 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009