Table 4

Potential candidate SNVs found in the study

GeneChrPosRefAltsAltP1P2P3P4P5Allele frequency in 330 living epilepsy controlsAllele frequency in 320 ethnicity-match non-epilepsy controls1000 G (%)Rs numberSIFT scorePolyphen2 HDIV scoreGene classification
SCN5A chr338 616 877GAA0/00/00/10/00/0000.04rs19237924201SUDEP related
CACNA1A chr1913 319 766CTT0/00/00/10/00/0620.04rs3731926550.030.997SUDEP related
NEB chr2152 419 216AGG0/00/00/00/10/0231rs1847237370.040.998Epilepsy related
SCN9A chr2167 137 045AGG0/00/10/00/00/0120.08rs18752656701Epilepsy related
GUF1 chr444 691 907TAA0/00/00/10/00/0410.04rs11530608401Epilepsy related
TLR4 chr9120 476 846GAA0/00/10/00/00/0030.04rs5575150101Epilepsy related
TRPM2 chr2145 825 855CTT0/00/00/00/00/1010.24rs7775999701Epilepsy related
PLA2G6 chr2238 508 172GCC0/00/00/00/00/1320.3rs14075803301Epilepsy related
TBX18 chr685 457 756CTT0/00/00/00/10/0000.02rs2003177740.051Heart disease related
KIF6 chr639 353 422GAA0/10/00/00/00/0000.04rs13911292801Heart disease related
CYSLTR2 chr1349 281 363TCC0/10/00/00/00/0010.04rs2007734220.010.999Asthma related
  • Alt, altered base; Alts, altered bases, if there is more than one altered base; Chr, Chromosome ID; 1000 G, allele frequencies in 1000 genomes project database; HDIV, HumDiv; Pos, mutation position in each chromosome; P1–P5, patient 1–patient 5; Ref, reference base; SNV, single nucleotide variation; SUDEP, sudden unexpected death in epilepsy.