Statistics
| Case | Control |
|---|---|
| 19503 | 440691 |
Phenotype Definition
A hole (perforation) in the wall of the intestine. []
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 | 18420 | 457683 | 197.2 | 8.587e-45 | 0.8667 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 734 | 26792 | 158.2 | 2.846e-36 | 0.6246 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 2194 | 64864 | 142.1 | 9.096e-33 | 0.7669 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 482 | 18895 | 138.4 | 5.883e-32 | 0.5831 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 14478 | 308170 | 134.1 | 5.317e-31 | 1.131 |
| chr15:48392165 | rs1834640 | - | A>G | 911 | 30713 | 133.9 | 5.874e-31 | 0.6764 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 13256 | 280441 | 132.8 | 1.021e-30 | 1.133 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 1838 | 55154 | 132.1 | 1.397e-30 | 0.7572 |
| chr11:111165009 | rs7103178 | - | T>C | 13287 | 281596 | 127.1 | 1.762e-29 | 1.13 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 470 | 17675 | 114.4 | 1.092e-26 | 0.608 |
| chr2:66725070 | rs12995572 | MEIS1 | G>C | 795 | 26356 | 106.0 | 7.37e-25 | 0.6892 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 393 | 15024 | 101.7 | 6.387e-24 | 0.5991 |
| chr17:29290106 | rs55861543 | - | C>T | 577 | 20182 | 101.0 | 9.121e-24 | 0.6542 |
| chr2:226686177 | rs7581591 | - | T>C | 545 | 19290 | 100.8 | 1.033e-23 | 0.6469 |
| chr9:137925543 | rs7027926 | - | G>A | 442 | 16378 | 100.7 | 1.094e-23 | 0.6178 |
| chr2:163216109 | rs3213843 | GCA | C>T | 288 | 11864 | 99.08 | 2.423e-23 | 0.5558 |
| chr16:28995057 | rs11859822 | SPNS1 | T>C | 893 | 28543 | 96.19 | 1.042e-22 | 0.715 |
| chr8:10557760 | rs57041981 | RP1L1 | A>G | 442 | 16206 | 96.02 | 1.135e-22 | 0.6246 |
| chr6:37328215 | Affx-28571852 | RNF8 | C>CT | 535 | 18781 | 95.37 | 1.583e-22 | 0.6519 |
| chr16:28954860 | rs7203982 | - | T>C | 893 | 28489 | 95.27 | 1.665e-22 | 0.7161 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 17394 | 421284 | 155.7 | 9.601e-36 | 0.8781 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 12741 | 265402 | 114.9 | 8.137e-27 | 1.126 |
| chr11:111165009 | rs7103178 | - | T>C | 12762 | 266031 | 112.6 | 2.629e-26 | 1.124 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 14085 | 297095 | 98.85 | 2.728e-23 | 1.113 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 17839 | 424922 | 92.18 | 7.917e-22 | 0.9051 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 18227 | 432805 | 85.34 | 2.513e-20 | 0.9086 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 9675 | 235848 | 73.43 | 1.04e-17 | 0.9025 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 8113 | 199643 | 73.09 | 1.236e-17 | 0.8969 |
| chr8:117630683 | rs16892766 | - | A>C | 3533 | 69579 | 69.03 | 9.676e-17 | 1.162 |
| chr8:117640315 | rs11986063 | - | C>T | 3847 | 76539 | 65.2 | 6.75e-16 | 1.151 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 7851 | 163371 | 62.62 | 2.509e-15 | 1.108 |
| chr10:8701219 | rs10795668 | - | G>A | 11990 | 287484 | 60.34 | 7.969e-15 | 0.9166 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 15137 | 359359 | 59.24 | 1.395e-14 | 0.9213 |
| chr20:60920700 | rs6143035 | LAMA5 | T>C | 8971 | 217604 | 56.99 | 4.373e-14 | 0.9114 |
| chr15:32994756 | rs4779584 | - | C>T | 7951 | 166224 | 56.24 | 6.422e-14 | 1.101 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 15234 | 327757 | 55.97 | 7.375e-14 | 1.083 |
| chr20:6377965 | rs432266 | - | C>T | 13364 | 287130 | 49.19 | 2.319e-12 | 1.08 |
| chr20:60921044 | rs4925386 | LAMA5 | C>T | 11672 | 278397 | 48.21 | 3.829e-12 | 0.9246 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 19975 | 435758 | 47.79 | 4.745e-12 | 1.074 |
| chr20:6404281 | rs961253 | - | C>A | 14555 | 313992 | 47.59 | 5.266e-12 | 1.077 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 17394 | 129430 | 137.3 | 1.031e-31 | 0.8801 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 12741 | 81810 | 99.22 | 2.261e-23 | 1.122 |
| chr11:111165009 | rs7103178 | - | T>C | 12762 | 82012 | 96.54 | 8.744e-23 | 1.12 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 14085 | 91524 | 85.69 | 2.101e-20 | 1.11 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 17839 | 130431 | 77.43 | 1.373e-18 | 0.9088 |
| chr8:117630683 | rs16892766 | - | A>C | 3533 | 21179 | 72.09 | 2.059e-17 | 1.175 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 9675 | 72727 | 71.71 | 2.497e-17 | 0.8995 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 18227 | 132843 | 71.45 | 2.837e-17 | 0.9123 |
| chr8:117640315 | rs11986063 | - | C>T | 3847 | 23345 | 66.78 | 3.029e-16 | 1.161 |
| chr10:8701219 | rs10795668 | - | G>A | 11990 | 88604 | 59.37 | 1.303e-14 | 0.9137 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 8113 | 61063 | 58.33 | 2.215e-14 | 0.9034 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 15137 | 110357 | 50.96 | 9.443e-13 | 0.9236 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 15234 | 100895 | 49.11 | 2.417e-12 | 1.081 |
| chr20:60920700 | rs6143035 | LAMA5 | T>C | 8971 | 66729 | 47.68 | 5.012e-12 | 0.9152 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 19975 | 133883 | 45.99 | 1.186e-11 | 1.076 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 7851 | 50669 | 45.86 | 1.272e-11 | 1.096 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 12328 | 81216 | 43.94 | 3.383e-11 | 1.08 |
| chr20:6404281 | rs961253 | - | C>A | 14555 | 96579 | 43.35 | 4.589e-11 | 1.077 |
| chr20:60921044 | rs4925386 | LAMA5 | C>T | 11672 | 85574 | 42.95 | 5.627e-11 | 0.9255 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 16356 | 109112 | 40.75 | 1.731e-10 | 1.073 |
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 | 13/20 |
| ICD: D126 | Colon, unspecified | 7/20 |
| ICD: D128 | Rectum | 9/20 |