Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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