TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Focal Dystonia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607134
rs267607134 		0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		Nervous System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs727502811
rs727502811 		0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		Nervous System Diseases 0.020 1.000 2 2009 2014
dbSNP: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1801968
rs1801968 		0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3842225
rs3842225 		0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		Nervous System Diseases 0.010 1.000 1 2010 2010