Statistics
| Case | Control |
|---|---|
| 5145 | 455049 |
Phenotype Definition
A hole (perforation) in the wall of the rectum. [PMID:28290145]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 135 | 27391 | 93.48 | 4.102e-22 | 0.4419 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 478 | 66580 | 93.08 | 5.017e-22 | 0.638 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 4675 | 471428 | 92.45 | 6.92e-22 | 0.8276 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 393 | 56599 | 88.26 | 5.727e-21 | 0.6187 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 78 | 19299 | 85.88 | 1.908e-20 | 0.3636 |
| chr15:48392165 | rs1834640 | - | A>G | 180 | 31444 | 81.13 | 2.111e-19 | 0.5134 |
| chr16:129223 | rs710079 | MPG | C>T | 159 | 27883 | 72.17 | 1.971e-17 | 0.5126 |
| chr6:3185712 | rs7754077 | - | C>T | 85 | 18587 | 70.47 | 4.663e-17 | 0.4119 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 112 | 21831 | 69.12 | 9.256e-17 | 0.4619 |
| chr16:84034745 | rs2292333 | NECAB2 | G>A | 666 | 82316 | 67.76 | 1.851e-16 | 0.7194 |
| chr17:29290106 | rs55861543 | - | C>T | 104 | 20655 | 67.48 | 2.124e-16 | 0.4535 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 99 | 19911 | 66.3 | 3.872e-16 | 0.4482 |
| chr6:37328215 | Affx-28571852 | RNF8 | C>CT | 94 | 19222 | 65.81 | 4.969e-16 | 0.4407 |
| chr9:140957557 | rs11137360 | CACNA1B | A>G | 108 | 20898 | 65.16 | 6.89e-16 | 0.4657 |
| chr17:29298304 | rs7225888 | RNF135 | C>G | 100 | 19835 | 64.6 | 9.163e-16 | 0.4543 |
| chr18:9536315 | rs14336 | RALBP1 | A>C | 47 | 12820 | 63.02 | 2.051e-15 | 0.331 |
| chr19:42391425 | rs28521795 | ARHGEF1 | G>A | 94 | 18728 | 61.43 | 4.598e-15 | 0.4524 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 89 | 18056 | 61.15 | 5.285e-15 | 0.444 |
| chr3:69230061 | rs9831516 | FRMD4B | A>G | 89 | 18066 | 61.06 | 5.542e-15 | 0.4442 |
| chr9:127267689 | rs3814134 | NR5A1 | A>G | 183 | 29023 | 59.19 | 1.432e-14 | 0.5667 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 4480 | 434198 | 70.92 | 3.714e-17 | 0.8449 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 3434 | 274709 | 49.14 | 2.388e-12 | 1.159 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 2188 | 169034 | 48.7 | 2.985e-12 | 1.184 |
| chr11:111165009 | rs7103178 | - | T>C | 3443 | 275350 | 48.46 | 3.379e-12 | 1.157 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 4626 | 438135 | 41.7 | 1.062e-10 | 0.8793 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 3768 | 307412 | 36.84 | 1.281e-09 | 1.133 |
| chr15:32994756 | rs4779584 | - | C>T | 2187 | 171988 | 36.61 | 1.441e-09 | 1.158 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 2070 | 205686 | 36.43 | 1.582e-09 | 0.8615 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 4744 | 446288 | 36.16 | 1.817e-09 | 0.8873 |
| chr1:204477977 | rs11240754 | - | G>A | 2898 | 280902 | 35.73 | 2.269e-09 | 0.8767 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 2482 | 243041 | 35.61 | 2.411e-09 | 0.8709 |
| chr8:117630683 | rs16892766 | - | A>C | 980 | 72132 | 35.54 | 2.496e-09 | 1.223 |
| chr1:204556958 | rs12566957 | - | T>C | 3297 | 316543 | 33.47 | 7.244e-09 | 0.8844 |
| chr15:33066195 | rs75798403 | FMN1 | C>A | 1536 | 118233 | 33.42 | 7.416e-09 | 1.175 |
| chr8:117683144 | rs4289842 | EIF3H | A>C | 1095 | 82796 | 29.47 | 5.672e-08 | 1.191 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 3925 | 370571 | 29.12 | 6.817e-08 | 0.8955 |
| chr6:32429643 | rs9268853 | - | T>C | 3911 | 322650 | 28.7 | 8.441e-08 | 1.116 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 5374 | 450359 | 28.65 | 8.688e-08 | 1.112 |
| chr6:32432835 | rs9268923 | - | C>T | 3920 | 323682 | 28.55 | 9.113e-08 | 1.115 |
| chr6:32550550 | rs28724008 | HLA-DRB1 | C>G | 3903 | 322398 | 28.01 | 1.21e-07 | 1.114 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr16:84034745 | rs2292333 | NECAB2 | G>A | 666 | 2307 | 39.69 | 2.98e-10 | 0.7512 |
| chr16:129223 | rs710079 | MPG | C>T | 159 | 694 | 33.1 | 8.761e-09 | 0.6035 |
| chr3:69230061 | rs9831516 | FRMD4B | A>G | 89 | 440 | 29.82 | 4.743e-08 | 0.5338 |
| chr16:84035446 | rs2271298 | NECAB2 | C>G | 1010 | 3213 | 27.67 | 1.438e-07 | 0.8189 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 78 | 385 | 25.96 | 3.485e-07 | 0.5351 |
| chr9:125992073 | rs2488597 | STRBP | A>G | 1602 | 4867 | 25.8 | 3.786e-07 | 0.8528 |
| chr4:21793693 | rs16867651 | KCNIP4 | T>G | 120 | 528 | 25.74 | 3.904e-07 | 0.5999 |
| chr12:88325488 | rs10777080 | - | A>G | 1295 | 3997 | 25.69 | 4.017e-07 | 0.8409 |
| chr2:45221305 | rs767493 | - | T>C | 5528 | 13889 | 25.09 | 5.469e-07 | 1.121 |
| chr12:88319723 | rs4842592 | - | A>G | 1510 | 4596 | 25.03 | 5.644e-07 | 0.8515 |
| chr9:137331106 | rs14317 | RXRA | C>A | 125 | 541 | 24.97 | 5.813e-07 | 0.61 |
| chr6:3185712 | rs7754077 | - | C>T | 85 | 405 | 24.9 | 6.041e-07 | 0.5545 |
| chr16:29790864 | rs235636 | ZG16 | A>G | 50 | 280 | 24.87 | 6.128e-07 | 0.4722 |
| chr11:15985572 | rs730994 | - | C>G | 57 | 305 | 24.63 | 6.93e-07 | 0.4946 |
| chr18:9536315 | rs14336 | RALBP1 | A>C | 47 | 265 | 23.87 | 1.03e-06 | 0.4689 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 135 | 567 | 23.68 | 1.14e-06 | 0.628 |
| chr9:140957557 | rs11137360 | CACNA1B | A>G | 108 | 475 | 23.14 | 1.51e-06 | 0.6003 |
| chr6:47311798 | rs6458559 | - | C>T | 282 | 1028 | 22.97 | 1.648e-06 | 0.7221 |
| chr6:32546912 | rs34252386 | HLA-DRB1 | A>AG | 3726 | 9167 | 22.59 | 2.007e-06 | 1.123 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 99 | 442 | 22.5 | 2.104e-06 | 0.592 |
| chr16:84034745 | rs2292333 | NECAB2 | G>A | 603 | 1959 | 23.13 | 1.512e-06 | 0.7939 |
| chr7:117045256 | rs1119800 | CFTR | A>C | 1334 | 4012 | 22.01 | 2.716e-06 | 0.8528 |
| chr5:135165061 | rs55973833 | SLC25A48 | A>G | 1851 | 5418 | 21.44 | 3.649e-06 | 0.871 |
| chr2:45221305 | rs767493 | - | T>C | 5425 | 13510 | 20.63 | 5.577e-06 | 1.111 |
| chr2:117946999 | rs10179314 | - | C>T | 1137 | 2555 | 20.61 | 5.633e-06 | 1.186 |
| chr12:63815854 | rs17099406 | - | C>T | 150 | 248 | 20.41 | 6.238e-06 | 1.594 |
| chr7:100493998 | rs3757869 | ACHE | G>T | 4800 | 13260 | 20.3 | 6.612e-06 | 0.9006 |
| chr6:32550550 | rs28724008 | HLA-DRB1 | C>G | 3903 | 9563 | 19.74 | 8.881e-06 | 1.112 |
| chr7:100512824 | rs13232524 | - | T>C | 4828 | 13363 | 19.67 | 9.211e-06 | 0.9021 |
| chr6:32432835 | rs9268923 | - | C>T | 3920 | 9621 | 19.26 | 1.141e-05 | 1.111 |
| chr7:100446235 | rs7794532 | SLC12A9 | G>A | 4508 | 12501 | 19.09 | 1.25e-05 | 0.9031 |
| chr6:32546912 | rs34252386 | HLA-DRB1 | A>AG | 3645 | 8890 | 18.99 | 1.316e-05 | 1.114 |
| chr6:32429643 | rs9268853 | - | T>C | 3911 | 9595 | 18.85 | 1.417e-05 | 1.11 |
| chr8:41925986 | rs72641413 | - | A>G | 346 | 686 | 18.56 | 1.644e-05 | 1.333 |
| chr5:135082330 | rs10463928 | SLC25A48 | C>T | 2824 | 7995 | 18.41 | 1.78e-05 | 0.8952 |
| chr14:98858819 | rs1380206 | - | C>T | 1521 | 3528 | 18.4 | 1.794e-05 | 1.153 |
| chr19:30020752 | rs61731469 | VSTM2B | C>T | 312 | 609 | 18.4 | 1.788e-05 | 1.352 |
| chr6:32492866 | rs111834747 | HLA-DRB5 | C>T | 3757 | 9224 | 18.38 | 1.808e-05 | 1.11 |
| chr7:117407882 | rs35596763 | CTTNBP2 | G>A | 1183 | 3544 | 18.38 | 1.813e-05 | 0.8579 |
| chr6:32546696 | rs3208409 | HLA-DRB1 | G>A | 3820 | 9368 | 18.37 | 1.823e-05 | 1.109 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: D128 | Rectum | 17/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: D127 | Rectosigmoid junction | 0/20 |
| ICD-10: D375 | Rectum | 0/20 |