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. 2012 Mar 27;7(3):e33598. doi: 10.1371/journal.pone.0033598

Table 3. Variants identified in NFKB1 by direct sequencing in 94 TRS cases and controls.

SNP Region Allele Genotype Effect Risk Allele RAF F difference
case (%) control (%) case control
rs28362491 P ATTG/- ins/ins∶ins/-∶-/- 24.4 ∶ 46.7 ∶ 28.9 31.7 ∶ 47.8 ∶ 20.5 del 0.522 0.444 0.078
rs11940017 P T>C TT∶TC∶CC 85.9 ∶ 14.1 ∶ 0 95.7 ∶ 4.3 ∶ 0 C 0.071 0.022 0.049
rs11944443 p A>G AA∶AG∶GG 85.9 ∶ 14.1 ∶ 0 95.7 ∶ 4.3 ∶ 0 G 0.071 0.022 0.049
rs41477752 I2 T>- TT∶T/-∶-/- 87.0 ∶ 13.0 ∶ 0 95.6 ∶ 4.4 ∶ 0 del 0.065 0.022 0.043
IVS2-60 A>G I2 A>G AA∶AG∶GG 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 G 0.005 0 0.005
c.692 G>T E8 G>T GG∶GT∶TT 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 R231L T 0.005 0 0.005
rs4648049 I12 C>T CC∶CT∶TT 86.2 ∶ 13.8 ∶ 0 95.5 ∶ 4.5 ∶ 0 T 0.069 0.022 0.047
rs4648050 I12 T>C TT∶TC∶CC 25.5 ∶ 36.2 ∶ 38.3 27.0 ∶ 49.4 ∶ 23.6 C 0.564 0.483 0.081
IVS12+21 C>T I12 C>T CC∶CT∶TT 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 T 0.005 0 0.005
rs1020760 I11 G>C GG∶GC∶CC 42.1 ∶ 40.0 ∶ 17.9 24.7 ∶ 50.6 ∶ 24.7 G 0.621 0.5 0.121
IVS11-56 T>C I11 T>C TT∶TC∶CC 97.9 ∶ 2.1 ∶ 0 98.9 ∶ 1.1 ∶ 0 C 0.011 0.006 0.005
c.1116 G>A E12 G>A GG∶GA∶AA 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 S372S A 0.005 0 0.005
IVS13+196 T>G I13 T>G TT∶TG∶GG 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 G 0.005 0 0.005
c.1601 G>A E15 G>A GG∶GA∶AA 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 R534H A 0.005 0 0.005
IVS15+12 C>G I15 C>G CC∶CG∶GG 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 G 0.005 0 0.005
IVS15+40 G>A I15 G>A GG∶GA∶AA 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 A 0.005 0 0.005
rs4648095 I17 T>C TT∶TC∶CC 81.1 ∶ 18.9 ∶ 0 93.6 ∶ 9.6 ∶ 0 C 0.095 0.032 0.063
rs4648110 I22 T>A TT∶TA∶AA 92.6 ∶ 7.4 ∶ 0 87.1 ∶ 12.9 ∶ 0 T 0.963 0.935 0.028
rs4648117 I22 C>T CC∶CT∶TT 80.6 ∶ 19.4 ∶ 0 94.3 ∶ 5.7 ∶ 0 T 0.097 0.028 0.069
IVS22-23 C>T I22 C>T CC∶CT∶TT 97.8 ∶ 2.2 ∶ 0 100.0 ∶ 0 ∶ 0 T 0.011 0 0.011
rs3817685 I22 G>C GG∶GC∶CC 32.6 ∶ 41.3 ∶ 26.1 20.5 ∶52.3 ∶ 27.3 G 0.533 0.466 0.067
rs35795162 I23 -/A -/-∶-/A∶AA 77.4 ∶ 20.4 ∶ 2.2 90.9 ∶ 9.1 ∶ 0 A 0.124 0.045 0.079
IVS23-44 G>A I23 G>A GG∶GA∶AA 98.9 ∶ 1.1 ∶ 0 100.0 ∶ 0 ∶ 0 A 0.005 0 0.005

Risk allele means the allele with higher frequency in schizophrenia as compared with controls;

RAF: risk allele frequency.

P: promoter, I : intron.