rs797045013, 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.
SCN8A-related epilepsy with encephalopathy
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
52 0.925 0.160 12 51751523 missense variant C/T snv 0.700 1.000 2 2013 2014
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
6 0.925 0.160 12 51751523 missense variant C/T snv 0.700 1.000 1 2014 2014