rs202151337, 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
52 0.925 0.160 12 51806788 missense variant A/G snv 0.700 1.000 1 2012 2012
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 12 51806788 missense variant A/G snv 0.020 1.000 2 2015 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015