Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358233
rs80358233
T 0.700 CausalMutation CLINVAR The role of DYT1 in primary torsion dystonia in Europe. 9874484

1998

dbSNP: rs80358233
rs80358233
T 0.700 CausalMutation CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096

1997

dbSNP: rs727502811
rs727502811
0.030 GeneticVariation BEFREE Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia. 24930953

2014

dbSNP: rs727502811
rs727502811
0.030 GeneticVariation BEFREE Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia. 19284587

2009

dbSNP: rs727502811
rs727502811
0.030 GeneticVariation BEFREE Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 18477710

2008

dbSNP: rs1801968
rs1801968
0.020 GeneticVariation BEFREE In addition, we found no association of rs1801968 with dystonia. 26940431

2017

dbSNP: rs3842225
rs3842225
0.020 GeneticVariation BEFREE The rs35153737 variant showed a statistically significant association with dystonia using the allele model (P=0.035) and the dominant genetic model (P=0.018); however, no association between rs3842225 and dystonia was found. 28756192

2017

dbSNP: rs1182
rs1182
0.020 GeneticVariation BEFREE Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003). 25203860

2015

dbSNP: rs3842225
rs3842225
0.020 GeneticVariation BEFREE Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003). 25203860

2015

dbSNP: rs1801968
rs1801968
0.020 GeneticVariation BEFREE However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02). 23460578

2013

dbSNP: rs1182
rs1182
0.020 GeneticVariation BEFREE In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. 19202559

2009

dbSNP: rs35153737
rs35153737
0.010 GeneticVariation BEFREE Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A. 28756192

2017

dbSNP: rs142909469
rs142909469
0.010 GeneticVariation BEFREE In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia. 27477622

2016

dbSNP: rs1476648522
rs1476648522
0.010 GeneticVariation BEFREE In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia. 27477622

2016