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: 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: C4316810
Disease: Writer's Cramp
Writer's Cramp
Nervous System Diseases 0.010 1.000 1 2017 2017