TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Dystonia Disorders ×
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: 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