TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Dystonia, Primary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801968
rs1801968
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0752203
Disease:
Dystonia, Primary 		0.020 GeneticVariation BEFREE The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. 23405979 2013
dbSNP: rs1801968
rs1801968
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0752203
Disease:
Dystonia, Primary 		0.020 GeneticVariation BEFREE Our findings do not confirm that the allele contributes to the risk of D216H SNP primary dystonia. 22054283 2012