rs80358233, TOR1A

N. diseases: 2
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 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 6 1997 2014
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 2 1997 1998