TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
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: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C2930898
Disease: Benign essential blepharospasm
Benign essential blepharospasm 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		Nervous System Diseases 0.010 1.000 1 2012 2012
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: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs142909469
rs142909469 		9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016
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: rs1476648522
rs1476648522 		9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016
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: rs1801968
rs1801968 		0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		Nervous System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs1801968
rs1801968 		0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		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: C0154676
Disease: Organic writer's cramp
Organic writer's cramp 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2296793
rs2296793 		9 129822779 synonymous variant G/A snv 0.22 0.23
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs267607134
rs267607134 		0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs35153737
rs35153737 		9 129813558 3 prime UTR variant C/- del 0.14
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 2017 2017
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
dbSNP: rs3842225
rs3842225 		0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2016 2016
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
dbSNP: rs3842225
rs3842225 		0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3842225
rs3842225 		0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs529094238
rs529094238 		9 129822640 missense variant C/T snv 7.2E-05 2.8E-05
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs727502811
rs727502811 		0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs727502811
rs727502811 		0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014