rs727502811, TOR1A

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
4 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.810 1.000 2 2008 2011
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
Focal Dystonia
CUI: C0743332
Disease: Focal Dystonia
8 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.020 1.000 2 2009 2014
Early onset torsion dystonia
CUI: C3888090
Disease: Early onset torsion dystonia
1 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.010 1.000 1 2008 2008
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.010 1.000 1 2014 2014