Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374512193
rs374512193
0.010 GeneticVariation BEFREE A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient. 27913194

2017

dbSNP: rs146087734
rs146087734
0.010 GeneticVariation BEFREE A c.57C>T silent variant was found in 1 subject with segmental craniocervical dystonia. 20083799

2010