Table 2 List of SNPs of IL12A, IL12B, IL12RB1 and IL12BR2 tested in this study
SNP rs# | Gene(s) | Alleles | SNP position | MAF* | Role | AA change |
|---|---|---|---|---|---|---|
rs2243113 | IL12A | A/G | chr3:161188557 | 0.08 | Promoter | - |
rs582054 | IL12A | T/A | chr3:161192695 | 0.21 | Intron | - |
rs583911 | IL12A | A/G | chr3:161193084 | 0.11 | Intron | - |
rs2243128 | IL12A | G/A | chr3:161193205 | 0.17 | Intron | - |
rs2243138 | IL12A | A/T | chr3:161197044 | 0.47 | Downstream | - |
rs2243140 | IL12A | T/C | chr3:161197241 | 0.11 | Downstream | - |
rs2243143 | IL12A | A/G | chr3:161197496 | 0.45 | Downstream | - |
rs3212227 | IL12B | A/C | chr5:158675537 | 0.39 | 3' UTR | - |
rs3213119 | IL12B | C/A | chr5:158676366 | 0.00 | Coding exon | 298 V/F |
rs2195940 | IL12B | C/T | chr5:158676930 | 0.25 | Intron | - |
rs3213103 | IL12B | G/A | chr5:158679014 | 0.07 | Intron | - |
rs3213099 | IL12B | C/G | chr5:158680114 | 0.02 | Intron (boundary) | - |
rs919766 | IL12B | A/C | chr5:158680142 | 0.28 | Intron (boundary) | - |
rs2853694 | IL12B | T/G | chr5:158681666 | 0.17 | Intron | - |
rs3213096 | IL12B | C/T | chr5:158682907 | 0.00 | Coding exon | 33 V/I |
rs2569253 | IL12B | T/C | chr5:158683571 | 0.17 | Intron | - |
rs2569254 | IL12B | C/T | chr5:158683827 | 0.06 | Intron | - |
rs3746190 | IL12RB1 | G/A | chr19:18031384 | 0.07 | 3' UTR | - |
rs383483 | IL12RB1 | A/G | chr19:18032886 | 0.44 | Intron (boundary) | - |
rs438421 | IL12RB1 | C/T | chr19:18037086 | 0.30 | Intron | - |
rs2045386 | IL12RB1 | G/A | chr19:18043266 | 0.28 | Intron | - |
rs447171 | IL12RB1 | C/T | chr19:18045647 | 0.27 | Intron | - |
rs11575934 | IL12RB1 | T/C | chr19:18047618 | 0.14 | Coding exon | 214 Q/R |
rs429774 | IL12RB1 | T/C | chr19:18047752 | 0.24 | Intron (boundary) | - |
rs17882031 | IL12RB1 | C/T | chr19:18048349 | 0.00 | Intron | - |
rs11575926 | IL12RB1 | C/T | chr19:18049408 | 0.00 | Coding exon | 156 R/H |
rs11575925 | IL12RB1 | G/C | chr19:18053977 | 0.00 | Coding exon | 74 S/R |
rs897751 | IL12RB1 | A/G | chr19:18054349 | 0.30 | Intron | - |
rs439409 | IL12RB1 | G/A | chr19:18054613 | 0.32 | Intron | - |
rs17884651 | IL12RB1 | C/A | chr19:18058626 | 0.00 | Coding exon | 3 P/Q |
rs393548 | IL12RB1 | T/A | chr19:18058744 | 0.27 | Promoter | -111 |
rs7544381 | IL12RB2 | C/T | chr1:67546881 | 0.49 | Intron | - |
rs17129749 | IL12RB2 | C/T | chr1:67552339 | 0.30 | Intron | - |
rs17129751 | IL12RB2 | G/A | chr1:67552503 | 0.04 | Intron | - |
rs2307147 | IL12RB2 | T/C | chr1:67559874 | 0.24 | Coding exon | 26 D/D |
rs17129778 | IL12RB2 | A/T | chr1:67560279 | 0.12 | Intron | - |
rs17129792 | IL12RB2 | G/A | chr1:67565087 | 0.04 | Coding exon | 149 R/Q |
rs1495963 | IL12RB2 | C/T | chr1:67567907 | 0.32 | Coding exon | 238 S/S |
rs2307149 | IL12RB2 | A/T | chr1:67568038 | 0.06 | Intron (boundary) | - |
rs17838054 | IL12RB2 | G/A | chr1:67589869 | 0.00 | Intron | - |
rs2307145 | IL12RB2 | G/C | chr1:67606115 | 0.11 | Coding exon | 426 Q/H |
rs2307153 | IL12RB2 | G/A | chr1:67606231 | 0.004 | Coding exon | 465 G/D |
rs6685568 | IL12RB2 | A/G | chr1:67627885 | 0.45 | Intron | - |
rs2270614 | IL12RB2 | A/G | chr1:67628609 | 0.17 | Intron | - |
rs2229546 | IL12RB2 | C/A | chr1:67634108 | 0.46 | Coding exon | 779 P/P |
rs17838066 | IL12RB2 | T/G | chr1:67634194 | 0.00 | Coding exon | 808 L/R |