Statistics
| Case | Control |
|---|---|
| 14545 | 445649 |
Phenotype Definition
A narrowing of a segment of colon whereby bowel continuity is maintained. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 13708 | 462395 | 167.1 | 3.226e-38 | 0.8594 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 10933 | 311715 | 122.6 | 1.667e-28 | 1.144 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 10006 | 283691 | 120.0 | 6.278e-28 | 1.146 |
| chr11:111165009 | rs7103178 | - | T>C | 10042 | 284841 | 118.8 | 1.134e-27 | 1.145 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 1713 | 65345 | 74.47 | 6.169e-18 | 0.8049 |
| chr8:117630683 | rs16892766 | - | A>C | 2849 | 75848 | 73.16 | 1.196e-17 | 1.187 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 617 | 26909 | 71.26 | 3.133e-17 | 0.7078 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 1441 | 55551 | 68.55 | 1.238e-16 | 0.7978 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 13713 | 449380 | 67.77 | 1.833e-16 | 0.9081 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 14026 | 459115 | 66.88 | 2.89e-16 | 0.9088 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 12839 | 377313 | 66.19 | 4.089e-16 | 1.101 |
| chr20:6377965 | rs432266 | - | C>T | 10340 | 301374 | 65.37 | 6.215e-16 | 1.105 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 12843 | 378040 | 64.68 | 8.824e-16 | 1.1 |
| chr11:111213944 | rs12365324 | - | G>A | 12600 | 371001 | 63.05 | 2.018e-15 | 1.099 |
| chr15:48392165 | rs1834640 | - | A>G | 744 | 30880 | 62.57 | 2.576e-15 | 0.7437 |
| chr20:6404281 | rs961253 | - | C>A | 11388 | 334162 | 60.69 | 6.683e-15 | 1.098 |
| chr8:117640315 | rs11986063 | - | C>T | 3139 | 85386 | 60.53 | 7.252e-15 | 1.161 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 12927 | 381659 | 57.58 | 3.252e-14 | 1.094 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 9533 | 277582 | 57.23 | 3.877e-14 | 1.1 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 7390 | 247978 | 55.84 | 7.864e-14 | 0.9035 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 12867 | 425811 | 140.3 | 2.26e-32 | 0.8674 |
| chr11:111165009 | rs7103178 | - | T>C | 9623 | 269170 | 109.8 | 1.061e-25 | 1.142 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 9596 | 268547 | 108.8 | 1.795e-25 | 1.141 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 10616 | 300564 | 97.99 | 4.212e-23 | 1.131 |
| chr8:117630683 | rs16892766 | - | A>C | 2715 | 70397 | 79.46 | 4.932e-19 | 1.201 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 13249 | 429512 | 79.27 | 5.408e-19 | 0.899 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 13517 | 437515 | 77.19 | 1.556e-18 | 0.9003 |
| chr8:117640315 | rs11986063 | - | C>T | 2951 | 77435 | 75.0 | 4.7e-18 | 1.187 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 7159 | 238364 | 66.55 | 3.405e-16 | 0.8934 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 12355 | 358425 | 60.15 | 8.774e-15 | 1.098 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 12376 | 358764 | 59.83 | 1.035e-14 | 1.098 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 12377 | 359201 | 58.93 | 1.63e-14 | 1.097 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 11451 | 331540 | 56.2 | 6.561e-14 | 1.096 |
| chr15:32992658 | rs28399071 | - | G>A | 3080 | 83011 | 53.81 | 2.203e-13 | 1.153 |
| chr12:51032415 | rs12818741 | DIP2B | A>G | 10861 | 314254 | 51.04 | 9.054e-13 | 1.092 |
| chr20:6404281 | rs961253 | - | C>A | 10948 | 317599 | 50.77 | 1.041e-12 | 1.092 |
| chr20:6377965 | rs432266 | - | C>T | 10047 | 290447 | 50.68 | 1.09e-12 | 1.093 |
| chr10:8701219 | rs10795668 | - | G>A | 8906 | 290568 | 50.37 | 1.276e-12 | 0.9124 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 5875 | 165347 | 50.21 | 1.384e-12 | 1.111 |
| chr12:50934931 | rs11169484 | DIP2B | G>A | 10790 | 313380 | 47.68 | 5.012e-12 | 1.089 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 13708 | 100893 | 118.4 | 1.39e-27 | 0.8742 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 10006 | 62599 | 101.9 | 5.753e-24 | 1.141 |
| chr11:111165009 | rs7103178 | - | T>C | 10042 | 62837 | 101.3 | 7.995e-24 | 1.141 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 10933 | 68906 | 99.01 | 2.517e-23 | 1.136 |
| chr8:117630683 | rs16892766 | - | A>C | 2849 | 16626 | 68.29 | 1.413e-16 | 1.192 |
| chr8:117640315 | rs11986063 | - | C>T | 3139 | 18669 | 59.01 | 1.573e-14 | 1.169 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 13713 | 98690 | 55.87 | 7.727e-14 | 0.9119 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 14026 | 100829 | 55.13 | 1.127e-13 | 0.9126 |
| chr20:6404281 | rs961253 | - | C>A | 11388 | 73740 | 49.67 | 1.816e-12 | 1.094 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 12843 | 83608 | 48.4 | 3.471e-12 | 1.09 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 7390 | 54478 | 47.97 | 4.331e-12 | 0.9059 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 12839 | 83530 | 47.7 | 4.97e-12 | 1.09 |
| chr5:40265904 | rs1348612 | - | A>G | 9067 | 58154 | 46.64 | 8.527e-12 | 1.096 |
| chr20:6377965 | rs432266 | - | C>T | 10340 | 66837 | 46.35 | 9.89e-12 | 1.093 |
| chr11:111213944 | rs12365324 | - | G>A | 12600 | 82100 | 46.21 | 1.064e-11 | 1.089 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 11906 | 77412 | 44.02 | 3.25e-11 | 1.087 |
| chr19:33517515 | rs28626308 | RHPN2 | C>T | 1260 | 10443 | 43.12 | 5.14e-11 | 0.8189 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 12927 | 84395 | 43.03 | 5.379e-11 | 1.085 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 9533 | 61535 | 40.54 | 1.926e-10 | 1.088 |
| chr17:10707241 | rs1078643 | TMEM238L | A>G | 7263 | 53203 | 38.6 | 5.191e-10 | 0.9147 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 12867 | 93701 | 106.0 | 7.214e-25 | 0.8778 |
| chr11:111165009 | rs7103178 | - | T>C | 9623 | 59783 | 91.66 | 1.031e-21 | 1.137 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 9596 | 59645 | 90.97 | 1.455e-21 | 1.136 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 10616 | 66658 | 83.75 | 5.604e-20 | 1.127 |
| chr8:117630683 | rs16892766 | - | A>C | 2715 | 15553 | 72.17 | 1.976e-17 | 1.203 |
| chr8:117640315 | rs11986063 | - | C>T | 2951 | 17113 | 67.91 | 1.715e-16 | 1.189 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 13249 | 94647 | 59.66 | 1.127e-14 | 0.9072 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 13517 | 96448 | 58.8 | 1.748e-14 | 0.9079 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 7159 | 52559 | 54.28 | 1.735e-13 | 0.8984 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 12355 | 79709 | 45.52 | 1.51e-11 | 1.09 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 11451 | 73630 | 44.74 | 2.249e-11 | 1.09 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 12376 | 79833 | 44.16 | 3.029e-11 | 1.088 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 12377 | 79922 | 43.86 | 3.531e-11 | 1.088 |
| chr10:8701219 | rs10795668 | - | G>A | 8906 | 64223 | 43.24 | 4.845e-11 | 0.9144 |
| chr20:6404281 | rs961253 | - | C>A | 10948 | 70429 | 42.85 | 5.924e-11 | 1.089 |
| chr5:40265904 | rs1348612 | - | A>G | 8872 | 56532 | 41.56 | 1.143e-10 | 1.092 |
| chr20:6377965 | rs432266 | - | C>T | 10047 | 64565 | 39.67 | 3.008e-10 | 1.087 |
| chr17:812750 | rs2955621 | NXN | G>A | 5505 | 34338 | 37.83 | 7.701e-10 | 1.105 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 11270 | 80065 | 35.99 | 1.979e-09 | 0.9254 |
| chr8:117683144 | rs4289842 | EIF3H | A>C | 2954 | 17895 | 35.92 | 2.052e-09 | 1.134 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C187 | Sigmoid colon | 4/20 |
| ICD: D122 | Ascending colon | 11/20 |
| ICD: D123 | Transverse colon | 11/20 |
| ICD: D124 | Descending colon | 4/20 |
| ICD: D125 | Sigmoid colon | 8/20 |