rs796053228, 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.
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.160 12 51807100 missense variant C/G;T snv 0.720 1.000 2 2019 2020
SCN8A-related epilepsy with encephalopathy
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
52 0.882 0.160 12 51807100 missense variant C/G;T snv 0.700 1.000 3 2014 2015
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.882 0.160 12 51807100 missense variant C/G;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 12 51807100 missense variant C/G;T snv 0.020 1.000 2 2019 2020