rs1064794727, 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.
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
4 0.882 0.160 12 51807092 missense variant T/C snv 0.700 0
SCN8A-related epilepsy with encephalopathy
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
52 0.882 0.160 12 51807092 missense variant T/C snv 0.700 0
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
6 0.882 0.160 12 51807092 missense variant T/C snv 0.700 0