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: rs727502811
rs727502811
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 2 2008 2011
dbSNP: rs267607134
rs267607134
0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 12 1997 2016
dbSNP: rs80358233
rs80358233
1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 1997 2014
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs267607134
rs267607134
0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04
CUI: C4016920
Disease: DYSTONIA 1, TORSION, LATE-ONSET
DYSTONIA 1, TORSION, LATE-ONSET
0.700 0
dbSNP: rs760768475
rs760768475
1.000 0.080 9 129814109 stop gained G/A snv 2.8E-05 1.4E-05
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs727502811
rs727502811
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.030 1.000 3 2008 2014
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: 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: 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: 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: 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: 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: 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