rs374512193, THAP1

N. diseases: 4
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 6, torsion (disorder)
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
24 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.700 1.000 1 2011 2011
Blepharospasm
CUI: C0005747
Disease: Blepharospasm
6 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017