rs587776703, SCN8A

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.
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
4 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018