rs869312690, SCN8A

N. diseases: 3
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.
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.925 0.240 12 51806762 missense variant A/G snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.240 12 51806762 missense variant A/G snv 0.700 0
SCN8A-related epilepsy with encephalopathy
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
52 0.925 0.240 12 51806762 missense variant A/G snv 0.700 0