Statistics
| Case | Control |
|---|---|
| 15828 | 444366 |
Phenotype Definition
A hole (perforation) in the wall of the colon. [PMID:22334860]
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 | 14907 | 461196 | 174.0 | 9.747e-40 | 0.8619 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 11829 | 310819 | 125.7 | 3.545e-29 | 1.14 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 10822 | 282875 | 120.9 | 3.932e-28 | 1.14 |
| chr11:111165009 | rs7103178 | - | T>C | 10850 | 284033 | 117.8 | 1.92e-27 | 1.138 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 615 | 26911 | 113.4 | 1.722e-26 | 0.6472 |
| chr15:48392165 | rs1834640 | - | A>G | 756 | 30868 | 97.51 | 5.36e-23 | 0.6937 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 1820 | 65238 | 97.24 | 6.133e-23 | 0.7862 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 416 | 18961 | 91.71 | 1.005e-21 | 0.6229 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 1533 | 55459 | 87.62 | 7.929e-21 | 0.7807 |
| chr2:66725070 | rs12995572 | MEIS1 | G>C | 659 | 26492 | 77.26 | 1.5e-18 | 0.7058 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 405 | 17740 | 74.58 | 5.817e-18 | 0.6483 |
| chr2:163216109 | rs3213843 | GCA | C>T | 240 | 11912 | 74.4 | 6.391e-18 | 0.5728 |
| chr15:89154966 | rs7170666 | - | G>A | 1374 | 49372 | 73.77 | 8.758e-18 | 0.7871 |
| chr9:137925543 | rs7027926 | - | G>A | 369 | 16451 | 73.54 | 9.839e-18 | 0.6375 |
| chr16:28995057 | rs11859822 | SPNS1 | T>C | 733 | 28703 | 73.18 | 1.184e-17 | 0.7245 |
| chr16:28954860 | rs7203982 | - | T>C | 733 | 28649 | 72.43 | 1.733e-17 | 0.7257 |
| chr11:111213944 | rs12365324 | - | G>A | 13690 | 369911 | 72.02 | 2.13e-17 | 1.101 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 334 | 15083 | 70.34 | 4.986e-17 | 0.6299 |
| chr5:100978551 | rs6895527 | - | A>G | 570 | 23077 | 69.08 | 9.443e-17 | 0.702 |
| chr2:242813574 | rs4075286 | RTP5 | T>C | 735 | 28477 | 68.73 | 1.131e-16 | 0.7319 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 14055 | 424623 | 140.9 | 1.72e-32 | 0.8722 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 10396 | 267747 | 106.1 | 6.859e-25 | 1.134 |
| chr11:111165009 | rs7103178 | - | T>C | 10415 | 268378 | 105.5 | 9.291e-25 | 1.133 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 11516 | 299664 | 98.87 | 2.693e-23 | 1.126 |
| chr8:117630683 | rs16892766 | - | A>C | 2924 | 70188 | 74.84 | 5.1e-18 | 1.187 |
| chr8:117640315 | rs11986063 | - | C>T | 3188 | 77198 | 73.68 | 9.179e-18 | 1.177 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 14483 | 428278 | 73.29 | 1.119e-17 | 0.9064 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 14786 | 436246 | 69.95 | 6.072e-17 | 0.9085 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 7811 | 237712 | 67.72 | 1.887e-16 | 0.8967 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 6604 | 201152 | 54.44 | 1.606e-13 | 0.9014 |
| chr10:8701219 | rs10795668 | - | G>A | 9703 | 289771 | 53.19 | 3.032e-13 | 0.9135 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 6380 | 164842 | 51.97 | 5.633e-13 | 1.108 |
| chr11:111213944 | rs12365324 | - | G>A | 13421 | 360058 | 45.89 | 1.249e-11 | 1.082 |
| chr15:32994756 | rs4779584 | - | C>T | 6451 | 167724 | 44.87 | 2.102e-11 | 1.1 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 12359 | 330632 | 44.31 | 2.802e-11 | 1.081 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 10050 | 266729 | 44.09 | 3.131e-11 | 1.085 |
| chr20:60920700 | rs6143035 | LAMA5 | T>C | 7291 | 219284 | 44.06 | 3.18e-11 | 0.9138 |
| chr15:32992658 | rs28399071 | - | G>A | 3297 | 82794 | 43.38 | 4.503e-11 | 1.131 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 13328 | 357812 | 41.77 | 1.027e-10 | 1.078 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 13300 | 357480 | 41.7 | 1.063e-10 | 1.078 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:10632484 | rs964425 | LYVE1 | A>G | 13265 | 2135 | 29.76 | 4.883e-08 | 1.177 |
| chr3:169465212 | rs76242544 | - | G>A | 444 | 130 | 26.38 | 2.802e-07 | 0.5991 |
| chr11:62266301 | rs677800 | AHNAK | T>G | 1549 | 195 | 21.4 | 3.732e-06 | 1.428 |
| chr17:72029900 | rs74698610 | - | C>T | 444 | 124 | 20.47 | 6.068e-06 | 0.6309 |
| chr14:90216462 | rs78355844 | - | C>T | 1109 | 266 | 20.21 | 6.954e-06 | 0.7313 |
| chr23:110532014 | rs145614248 | - | G>T | 1014 | 253 | 19.8 | 8.587e-06 | 0.7254 |
| chr12:66107157 | rs4460842 | - | G>A | 957 | 111 | 18.8 | 1.451e-05 | 1.547 |
| chr4:44379852 | rs73812261 | KCTD8 | C>T | 357 | 102 | 18.71 | 1.521e-05 | 0.6156 |
| chr4:188045769 | rs74847189 | - | G>A | 1378 | 175 | 18.15 | 2.041e-05 | 1.413 |
| chr16:30883774 | rs117865589 | BCL7C | C>T | 330 | 95 | 17.85 | 2.386e-05 | 0.612 |
| chr7:1093878 | rs76471434 | C7orf50 | G>A | 678 | 171 | 17.72 | 2.559e-05 | 0.6952 |
| chr10:7791946 | rs117280114 | - | G>A | 362 | 102 | 17.69 | 2.6e-05 | 0.6242 |
| chr6:32995962 | rs3128941 | - | C>T | 15124 | 2852 | 17.62 | 2.704e-05 | 0.8854 |
| chr23:110616999 | rs181914195 | DCX | C>A | 709 | 183 | 17.33 | 3.135e-05 | 0.704 |
| chr11:10616209 | rs10770126 | LYVE1 | A>G | 13532 | 2561 | 17.3 | 3.193e-05 | 0.8858 |
| chr13:98932809 | rs79266052 | FARP1 | G>A | 625 | 159 | 17.16 | 3.431e-05 | 0.6901 |
| chr3:181972335 | rs72622583 | - | C>T | 1076 | 253 | 17.09 | 3.566e-05 | 0.7451 |
| chr11:10631247 | rs3741042 | LYVE1 | C>T | 15284 | 2543 | 16.99 | 3.762e-05 | 1.127 |
| chr8:27358495 | rs139234214 | EPHX2 | C>T | 529 | 138 | 16.86 | 4.014e-05 | 0.6739 |
| chr9:13133479 | rs10809906 | MPDZ | G>A | 4900 | 748 | 16.77 | 4.214e-05 | 1.189 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C187 | Sigmoid colon | 2/20 |
| ICD: D123 | Transverse colon | 4/20 |
| ICD: D124 | Descending colon | 4/20 |
| ICD: D125 | Sigmoid colon | 14/20 |
| ICD: D126 | Colon, unspecified | 6/20 |