Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
ABCB1
0.010 GeneticVariation BEFREE Marginal associations with akathisia (p=0.039 and p=0.042, respectively) and dystonia (p=0.013 and p=0.034, respectively) were observed for both G2677T/A and C3435T genotypes. 20060871

2010
dbSNP: rs2032582
rs2032582
ABCB1
0.010 GeneticVariation BEFREE Marginal associations with akathisia (p=0.039 and p=0.042, respectively) and dystonia (p=0.013 and p=0.034, respectively) were observed for both G2677T/A and C3435T genotypes. 20060871

2010
dbSNP: rs104894003
rs104894003
ACTB
0.010 GeneticVariation BEFREE ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. 29788902

2018
dbSNP: rs796065306
rs796065306
ADCY5
0.010 GeneticVariation BEFREE In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea. 26537056

2015
dbSNP: rs864309484
rs864309484
ADCY5
0.010 GeneticVariation BEFREE In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. 26537056

2015
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: rs11655081
rs11655081
ARSG
0.010 GeneticVariation BEFREE We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003). 31731261

2019
dbSNP: rs267606670
rs267606670
ATP1A3
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356537
rs80356537
ATP1A3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Minor allele "A" of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia. 23816543

2013
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia. 25523127

2015
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Moreover, there was no relationship between Val66Met SNP and age at dystonia onset or type of dystonia. 19473353

2009
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia. 25523127

2015
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Moreover, there was no relationship between Val66Met SNP and age at dystonia onset or type of dystonia. 19473353

2009
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Minor allele "A" of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia. 23816543

2013
dbSNP: rs146170087
rs146170087
C19orf12
0.710 GeneticVariation BEFREE We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. 30088953

2018
dbSNP: rs146170087
rs146170087
C19orf12
C 0.710 CausalMutation CLINVAR

dbSNP: rs515726205
rs515726205
C19orf12
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514477
rs397514477
C19orf12
0.010 GeneticVariation BEFREE We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. 30088953

2018
dbSNP: rs267606695
rs267606695
CA8
0.010 GeneticVariation BEFREE We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia. 19461874

2009
dbSNP: rs1554389088
rs1554389088
CAMK2B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561515242
rs1561515242
CAMK4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398122845
rs398122845
CASK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

dbSNP: rs74315442
rs74315442
CSTB
A 0.700 CausalMutation CLINVAR