rs587777721, 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.
SCN8A-related epilepsy with encephalopathy
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
52 0.925 0.160 12 51806336 missense variant G/A snv 0.800 1.000 18 2012 2017
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.925 0.160 12 51806336 missense variant G/A snv 0.700 0
Clumsiness
CUI: C0233844
Disease: Clumsiness
3 0.925 0.160 12 51806336 missense variant G/A snv 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.925 0.160 12 51806336 missense variant G/A snv 0.700 0