TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Early onset torsion 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: 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