Table 4.
CnSNPs with predicted functional change to the gene product located in the ±1 Mb region around the most significantly associated SNPs identified by genome-wide scan for dichotomized fibro-osseous lesion frequency.
| rsNumber | Chr | Position | UniProt gene name | AA position | AA1 | AA2 | PPH2 prediction | PPH2 Prob | PPH2 FPR | PPH2 TPR | Significant SNP | Distance to significant SNP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs13471558 | 19 | 3904246 | Tcirg1 | 56 | R | Q | Probably damaging | 0.987 | 0.036 | 0.731 | rs30448815 | 538 kb |
| rs37227651 | 19 | 3283148 | Mrpl21 | 26 | L | S | Possibly damaging | 0.505 | 0.0966 | 0.883 | rs31004232 | 36 kb |
| rs31109187 | 19 | 3652157 | Lrp5 | 220 | R | H | Possibly damaging | 0.928 | 0.058 | 0.806 | rs30448815 | 286 kb |
| rs36423656 | 19 | 4156330 | Ptprcap | 137 | Q | H | Possibly damaging | 0.827 | 0.0695 | 0.838 | rs30448815 | 790 kb |
| rs36467241 | 19 | 4289356 | Adrbk1 | 387 | L | V | Probably damaging | 0.998 | 0.0112 | 0.273 | rs30448816 | 923 kb |
| rs36600575 | 19 | 4001698 | Nudt8 | 90 | L | P | Probably damaging | 1 | 0.00026 | 0.00018 | rs30448817 | 635 kb |
| rs36770449 | 19 | 4011407 | Ndufv1 | 32 | F | L | Possibly damaging | 0.746 | 0.0783 | 0.853 | rs30448818 | 645 kb |
| rs37082918 | 8 | 91220214 | Rpgrip1l | 1253 | S | F | Probably damaging | 1 | 0.00026 | 0.00018 | rs33108071 | 468 kb |
| rs37186928 | 19 | 4156233 | Ptprcap | 105 | P | R | Probably damaging | 0.988 | 0.0353 | 0.727 | rs30448817 | 790 kb |
| rs37257011 | 19 | 3923893 | Aldh3b1 | 3 | S | W | Probably damaging | 0.987 | 0.036 | 0.731 | rs30448818 | 558 kb |
| rs37545229 | 19 | 4057961 | Bco21614 | 124 | P | L | Probably damaging | 0.972 | 0.0442 | 0.766 | rs30448819 | 692 kb |
| rs37755589 | 19 | 3911585 | Ncufs8 | 30 | S | R | Possibly damaging | 0.849 | 0.0674 | 0.834 | rs30448820 | 545 kb |
| rs37994963 | 19 | 4008109 | Ndufv1 | 367 | I | M | Probably damaging | 0.994 | 0.0289 | 0.689 | rs30448821 | 642 kb |
| rs38037222 | 19 | 3265302 | Ighmbp2 | 706 | S | F | Possibly damaging | 0.83 | 0.0692 | 0.837 | rs31004232 | 54 kb |
| rs38435684 | 19 | 3630364 | Lrp5 | 373 | H | Q | Probably damaging | 0.997 | 0.0167 | 0.409 | rs30448819 | 264 kb |
| rs38770011 | 19 | 4001229 | Nudt8 | 76 | Q | H | Possibly damaging | 0.803 | 0.0723 | 0.842 | rs30448820 | 635 kb |
| rs38991759 | 19 | 4262555 | Ssh3 | 583 | K | N | Possibly damaging | 0.52 | 0.096 | 0.882 | rs30448821 | 896 kb |
| rs39828615 | 19 | 4264447 | Ssh3 | 356 | L | M | Probably damaging | 1 | 0.00026 | 0.00018 | rs30448822 | 898 kb |
| rs45831590 | 8 | 91034908 | Chd9 | 2207 | G | D | Probably damaging | 0.999 | 0.00574 | 0.136 | rs33108071 | 283 kb |
| rs45837294 | 8 | 91090167 | Rbl2 | 428 | T | S | Probably damaging | 0.986 | 0.0368 | 0.736 | rs33108072 | 338 kb |
| rs49308844 | 8 | 91051370 | Chd9 | 2670 | G | S | Probably damaging | 0.999 | 0.00574 | 0.136 | rs33108073 | 300 kb |
| rs6401135 | 19 | 3268715 | Ighmbp2 | 454 | A | P | Possibly damaging | 0.92 | 0.0592 | 0.81 | rs31004232 | 50 kb |