rs267607134, TOR1A

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 1, TORSION, AUTOSOMAL DOMINANT
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
4 0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 0.700 1.000 12 1997 2016
DYSTONIA 1, TORSION, LATE-ONSET
CUI: C4016920
Disease: DYSTONIA 1, TORSION, LATE-ONSET
1 0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 0.700 0
Focal Dystonia
CUI: C0743332
Disease: Focal Dystonia
8 0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 0.020 1.000 2 2010 2014
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 0.010 1.000 1 2014 2014