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. 2022 Jul 8;54(1):1938–1951. doi: 10.1080/07853890.2022.2096257

Table 2.

Description of SCN genes variants among epilepsy cases and healthy controls.

Gene SNP ID SNP positiona Variant Consequence Cases (n = 296)
Controls (n = 293)
MA MAF HWE p value MAF HWE p value
SCN1A rs3812718 2:166053034 Intron T 0.46 0.73 0.40 0.05
rs2298771 2:166036278 Missense C 0.46 0.41 0.49 0.91
rs10167228 2:166042592 Intron T 0.46 0.41 0.49 0.91
rs146733308 2:165991324 Missense T 0.00 N/A 0.00 N/A
rs35735053 2:165991411 Missense G 0.00 N/A 0.00 N/A
rs3749029 2:165991504 Missense T 0.00 N/A 0.00 N/A
rs6432858 2:166033433 Intron C 0.46 0.41 0.49 1.00
rs10194956 2:166046065 Intron G 0.46 0.72 0.40 0.06
rs146878122 2:166009822 Missense A 0.00 0.10 0.00 N/A
rs121918817 2:166045080 Missense T 0.00 N/A 0.00 N/A
rs121918624 2:166052882 Stop Gained A 0.00 0.10 0.00 0.10
rs2169312 2:166071386 Intron C 0.17 0.68 0.18 0.69
rs1461197 2:166067962 Intron A 0.33 0.11 0.36 0.08
rs13405797 2:166062652 Intron A 0.17 0.84 0.17 0.53
rs4667866 2:166059523 Intron G 0.05 0.59 0.06 0.61
rs10188577 2:166059387 Intron C 0.28 0.001 0.23 0.87
rs1020853 2:166023272 Intron T 0.22 1.00 0.22 0.86
rs7587026 2:166122240 Intron A 0.24 0.01 0.19 1.0
rs1381105 2:166068661 Intron G 0.24 0.43 0.25 0.54
rs2162600 2:166069891 Intron C 0.18 0.55 0.18 0.69
rs10182473 2:166017213 Intron C 0.22 1.00 0.22 0.87
rs16851381 2:166056929 Intron G 0.05 1.00 0.06 0.61
rs4667869 2:166066849 Intron G 0.18 0.55 0.17 0.55
rs11692675 2:166069918 Intron C 0.29 1e-3 0.24 0.53
rs10497275 2:165990220 Intron G 0.05 0.59 0.06 0.61
rs7577411 2:165989284 Non Coding Transcript A 0.02 1.00 0.03 1e-3
rs10930195 2:166045896 Intron A 0.46 0.72 0.40 0.04
rs6432861 2:166046718 Intron T 0.45 0.051 0.40 0.14
rs7580482 2:166046935 Synonymous T 0.48 0.73 0.51 0.48
rs13383628 2:166047150 Intron T 0.46 0.64 0.4 0.051
rs1841546 2:166052594 Intron T 0.43 0.53 0.4 0.03
rs6722462 2:166075016 Intron C 0.33 0.09 0.36 0.10
rs6432860 2:166041354 Synonymous A 0.46 0.35 0.49 1.00
rs994399 2:166048970 Intron G 0.48 0.73 0.51 0.41
rs1542484 2:166048865 Intron A 0.46 0.72 0.4 0.05
rs1461193 2:166047836 Intron G 0.46 0.41 0.49 0.91
rs11690959 2:166047515 Intron A 0.45 0.73 0.40 0.07
rs7601520 2:166036571 Intron G 0.45 0.40 0.49 0.81
SCN2A rs12467383 2:165369259 Intron A 0.06 1.00 0.07 1.00
rs2304016 2:165311993 Intron G 0.00 N/A 0.00 N/A
rs17183814 2:165295879 Missense A 0.04 1e-3 0.04 5e-4
rs1965757 2:165308377 Intron G 0.29 0.16 0.32 0.68
rs353139 2:165289717 Intron C 0.36 0.30 0.38 0.90
rs7581811 2:165300655 Intron C 0.36 0.8 0.39 0.90
rs2116658 2:165310162 Intron T 0.38 0.08 0.41 0.33
rs12993173 2:165326704 Intron G 0.37 0.45 0.40 1.00
rs4667485 2:165363235 Intron C 0.28 0.89 0.20 0.58
rs1469649 2:165370597 Intron G 0.29 0.78 0.21 1.00
rs3816002 2:165342576 Intron G 0.00 N/A 0.00 N/A
rs1579865 2:165335204 Intron A 0.37 0.17 0.42 0.54
rs935403 2:165328783 Intron C 0.34 0.24 0.38 0.80
rs7592445 2:165303176 Intron C 0.29 0.26 0.31 0.78
rs2119067 2:165270773 Intron C 0.18 1.00 0.16 0.66
rs2119068 2:165270664 Intron C 0.42 0.90 0.43 1.00
rs10197716 2:165268464 Intron G 0.27 0.30 0.27 0.12
rs353112 2:165280573 Intron C 0.45 0.10 0.44 0.40
rs6740895 2:165283510 Intron C 0.23 0.11 0.26 0.37
rs3943809 2:165344371 Intron G 0.06 1.00 0.07 1.00
rs16850331 2:165292743 Intron T 0.07 0.63 0.08 1.00
rs12614399 2:165293790 Intron C 0.07 0.63 0.08 1.00
rs10182570 2:165253124 Intron C 0.26 0.45 0.27 0.18
rs1446579 2:165267091 Intron G 0.46 0.41 0.47 0.56
SCN3A rs7598098 2:165109768 Intron C 0.22 0.49 0.26 0.36
rs11903851 2:165134943 Intron T 0.26 <1e-4 0.25 1.00
rs1439807 2:165143358 Intron G 0.28 <1e-4 0.26 0.88
rs12615864 2:165175282 Intron A 0.07 0.14 0.09 0.72
rs16850186 2:165167410 Intron A 0.10 0.33 0.14 0.22
rs1439806 2:165135256 Intron A 0.26 0.35 0.23 0.17
rs7596422 2:165151706 Intron G 0.50 0.56 0.48 0.82
SCN1B rs3746255 19:35033642 Synonymous T 0.00 N/A 0.00 N/A
rs745394799 19:35034182 Intron T 0.00 N/A 0.00 N/A
rs2305748 19:35039234 Missense T 0.00 N/A 0.00 N/A
rs72550243 19:35039332 Intron T 0.00 1.00 0.00 1.00
rs55742440 19:35033920 Missense T 0.45 0.03 0.43 0.72
rs67701503 19:35034035 Missense A 0.19 0.01 0.16 1.00
rs67486287 19:35034040 Missense C 0.18 0.02 0.15 1.00
SCN2B rs8192613 11:118167098 Intron T 0.38 0.81 0.40 0.27
rs8192614 11:118166849 3 Prime UTR A 0.13 1.00 0.13 0.11
SCN3B rs3851100 11:123653202 Intron C 0.07 0.18 0.07 0.64
rs1783901 11:123642798 Intron T 0.28 0.19 0.24 0.33
SCN8A rs303777 12:51754412 Intron A 0.27 0.1 0.25 0.76
rs11169883 12:51597548 Intron T 0.41 0.06 0.46 0.24
rs303778 12:51750944 Intron G 0.15 1.00 0.13 1.00

aChromosome positions are based on NCBI Human Genome Assembly Build.

MA: minor allele; MAF: minor allele frequency; HWE: Hardy—Weinberg equilibrium.