rs1057519540, SCN8A

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.
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.160 12 51768895 missense variant A/G snv 0.700 0
SCN8A-related epilepsy with encephalopathy
52 0.925 0.160 12 51768895 missense variant A/G snv 0.700 0