rs587780455, SCN8A

N. diseases: 7
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 0.827 0.160 12 51807116 missense variant A/G snv 0.800 1.000 15 2012 2017
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
6 0.827 0.160 12 51807116 missense variant A/G snv 0.800 1.000 2 2016 2016
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.827 0.160 12 51807116 missense variant A/G snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
Epileptic Seizures
CUI: C4317109
Disease: Epileptic Seizures
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016