TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: 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: rs80358233
rs80358233 		1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 1997 1998
dbSNP: rs727502811
rs727502811 		0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.030 1.000 3 2008 2014
dbSNP: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1801968
rs1801968 		0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 0.500 2 2013 2017
dbSNP: rs3842225
rs3842225 		0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 0.500 2 2015 2017
dbSNP: rs142909469
rs142909469 		9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1476648522
rs1476648522 		9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs35153737
rs35153737 		9 129813558 3 prime UTR variant C/- del 0.14
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017