rs1801968, TOR1A

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
Dystonia, Primary
CUI: C0752203
Disease: Dystonia, Primary
5 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2012 2013
Focal Dystonia
CUI: C0743332
Disease: Focal Dystonia
8 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.010 1.000 1 2017 2017
Organic writer's cramp
CUI: C0154676
Disease: Organic writer's cramp
3 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.010 1.000 1 2017 2017
Segmental dystonia
CUI: C1997740
Disease: Segmental dystonia
9 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.010 1 2010 2010
Writer's Cramp
CUI: C4316810
Disease: Writer's Cramp
3 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.010 1.000 1 2017 2017