Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607134
rs267607134
0.020 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
0.020 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: rs267607134
rs267607134
0.020 GeneticVariation BEFREE A novel TOR1A missense mutation (c.613T-->A, p.F205I) in a patient with late onset, focal dystonia is reported. 19955557

2010

dbSNP: rs727502811
rs727502811
0.020 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: rs11655081
rs11655081
0.010 GeneticVariation BEFREE There is recent evidence, based on results from GWAS and meta-analyses, to suggest that arylsulfatase G (ARSG), and more specifically rs11655081, is implicated in focal dystonia. 30656493

2019

dbSNP: rs6265
rs6265
0.010 GeneticVariation BEFREE While the pathophysiology and genetic susceptibility in BSP and focal dystonia are only partially understood, it seems that BDNF and rs6265 may constitute one essential risk factor that is heavily involved. 30519954

2019

dbSNP: rs1182
rs1182
0.010 GeneticVariation BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261

2017

dbSNP: rs1801968
rs1801968
0.010 GeneticVariation BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261

2017

dbSNP: rs760743322
rs760743322
APP
0.010 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: rs3842225
rs3842225
0.010 GeneticVariation BEFREE In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. 20669276

2010