rs587780454, SCN8A

N. diseases: 1
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 1.000 0.160 12 51794620 missense variant G/A;C snv 0.800 1.000 15 2012 2017