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: rs80358233
rs80358233 		1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 1997 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: rs1182
rs1182 		0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs3842225
rs3842225 		0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.020 0.500 2 2015 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: 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: 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: 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: rs886041099
rs886041099 		1.000 0.040 9 129818784 missense variant T/A snv
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1801968
rs1801968 		0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.020 0.500 2 2013 2017
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: rs1801968
rs1801968 		0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		Nervous System Diseases 0.020 0.500 2 2012 2013
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