Statistics
| Case | Control |
|---|---|
| 6555 | 453639 |
Phenotype Definition
Congenital absence or underdevelopment of the colon. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 5543 | 357144 | 57.53 | 3.325e-14 | 1.142 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 6281 | 469822 | 54.68 | 1.418e-13 | 0.8802 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 6109 | 456984 | 53.22 | 2.98e-13 | 0.8817 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 6257 | 466884 | 51.81 | 6.121e-13 | 0.8833 |
| chr8:117630683 | rs16892766 | - | A>C | 1328 | 77369 | 47.41 | 5.747e-12 | 1.222 |
| chr10:80819132 | rs704017 | - | G>A | 5592 | 415945 | 37.36 | 9.839e-10 | 0.8986 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 5219 | 388184 | 33.55 | 6.961e-09 | 0.9024 |
| chr20:6404281 | rs961253 | - | C>A | 5194 | 340356 | 32.6 | 1.132e-08 | 1.106 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 4351 | 282764 | 32.37 | 1.276e-08 | 1.111 |
| chr19:49232226 | rs2287922 | RASIP1 | A>G | 6266 | 461197 | 31.57 | 1.926e-08 | 0.9076 |
| chr19:49228272 | rs2287921 | RASIP1 | C>T | 6270 | 461124 | 30.39 | 3.527e-08 | 0.9093 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 5817 | 384335 | 30.16 | 3.985e-08 | 1.1 |
| chr20:6377965 | rs432266 | - | C>T | 4693 | 307021 | 29.65 | 5.167e-08 | 1.104 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 5826 | 385057 | 29.37 | 5.994e-08 | 1.099 |
| chr8:117640315 | rs11986063 | - | C>T | 1430 | 87095 | 29.29 | 6.246e-08 | 1.164 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 5876 | 388710 | 29.26 | 6.317e-08 | 1.098 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 4844 | 317804 | 28.92 | 7.538e-08 | 1.102 |
| chr14:99777178 | rs2089681 | - | A>G | 1945 | 121290 | 28.81 | 7.999e-08 | 1.141 |
| chr6:55708497 | rs2023523 | BMP5 | A>G | 5238 | 387595 | 28.03 | 1.196e-07 | 0.9106 |
| chr7:44919200 | rs9701 | PURB | A>G | 1351 | 107926 | 27.51 | 1.563e-07 | 0.8597 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 5300 | 337691 | 57.09 | 4.158e-14 | 1.145 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 5999 | 445033 | 56.29 | 6.253e-14 | 0.8759 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 5885 | 436876 | 55.22 | 1.077e-13 | 0.8769 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 5854 | 432824 | 47.21 | 6.372e-12 | 0.8853 |
| chr8:117630683 | rs16892766 | - | A>C | 1245 | 71867 | 44.14 | 3.051e-11 | 1.221 |
| chr10:80819132 | rs704017 | - | G>A | 5261 | 387453 | 34.65 | 3.94e-09 | 0.8996 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 5013 | 369483 | 33.59 | 6.8e-09 | 0.9001 |
| chr8:117640315 | rs11986063 | - | C>T | 1331 | 79055 | 33.53 | 7.032e-09 | 1.184 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 4210 | 271914 | 28.63 | 8.768e-08 | 1.106 |
| chr6:55708497 | rs2023523 | BMP5 | A>G | 4961 | 364052 | 28.12 | 1.141e-07 | 0.9082 |
| chr12:51032415 | rs12818741 | DIP2B | A>G | 4931 | 320184 | 27.85 | 1.312e-07 | 1.101 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 5581 | 365559 | 27.78 | 1.357e-07 | 1.098 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 5575 | 365205 | 27.36 | 1.692e-07 | 1.098 |
| chr20:6404281 | rs961253 | - | C>A | 4964 | 323583 | 27.13 | 1.899e-07 | 1.099 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 5582 | 365996 | 27.09 | 1.946e-07 | 1.097 |
| chr12:50934931 | rs11169484 | DIP2B | G>A | 4890 | 319280 | 26.61 | 2.495e-07 | 1.099 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 6785 | 448948 | 26.4 | 2.78e-07 | 1.095 |
| chr14:99777178 | rs2089681 | - | A>G | 1909 | 118543 | 25.8 | 3.789e-07 | 1.135 |
| chr1:10752990 | rs60449700 | CASZ1 | A>G | 612 | 34747 | 24.66 | 6.845e-07 | 1.23 |
| chr3:40915239 | rs35470271 | - | A>G | 2109 | 132016 | 24.65 | 6.857e-07 | 1.126 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 5543 | 83795 | 49.21 | 2.3e-12 | 1.134 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 6109 | 106338 | 44.85 | 2.131e-11 | 0.8885 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 6257 | 108641 | 43.57 | 4.087e-11 | 0.8901 |
| chr8:117630683 | rs16892766 | - | A>C | 1328 | 18152 | 42.94 | 5.656e-11 | 1.216 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 6281 | 108357 | 33.57 | 6.874e-09 | 0.9028 |
| chr14:99777178 | rs2089681 | - | A>G | 1945 | 28285 | 28.31 | 1.035e-07 | 1.144 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 5219 | 90307 | 28.17 | 1.11e-07 | 0.9082 |
| chr10:80819132 | rs704017 | - | G>A | 5592 | 96463 | 27.78 | 1.361e-07 | 0.91 |
| chr8:117640315 | rs11986063 | - | C>T | 1430 | 20384 | 27.05 | 1.985e-07 | 1.162 |
| chr20:6404281 | rs961253 | - | C>A | 5194 | 79959 | 25.88 | 3.635e-07 | 1.097 |
| chr12:4400808 | rs3217874 | AC008012.1 | C>T | 6270 | 97532 | 23.92 | 1.005e-06 | 1.09 |
| chr8:145266722 | rs112996909 | MROH1 | A>G | 474 | 6159 | 23.73 | 1.109e-06 | 1.266 |
| chr13:34719409 | rs79827966 | - | G>A | 410 | 8523 | 23.73 | 1.107e-06 | 0.7792 |
| chr15:91135411 | rs6416553 | CRTC3 | T>C | 2279 | 33814 | 23.19 | 1.467e-06 | 1.121 |
| chr9:10011536 | rs72692777 | PTPRD | T>C | 596 | 7964 | 23.12 | 1.524e-06 | 1.232 |
| chr15:57385943 | rs72731917 | TCF12 | C>G | 492 | 6449 | 22.88 | 1.724e-06 | 1.255 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 4351 | 66737 | 22.84 | 1.763e-06 | 1.095 |
| chr10:60430441 | rs74629847 | BICC1 | A>G | 206 | 2392 | 22.55 | 2.044e-06 | 1.413 |
| chr11:22569723 | rs77404782 | - | C>T | 350 | 4414 | 21.96 | 2.779e-06 | 1.301 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 7132 | 111782 | 21.9 | 2.867e-06 | 1.086 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 5300 | 79800 | 48.27 | 3.715e-12 | 1.136 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 5999 | 104006 | 44.29 | 2.826e-11 | 0.8867 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 5885 | 102052 | 42.76 | 6.192e-11 | 0.8885 |
| chr8:117630683 | rs16892766 | - | A>C | 1245 | 17028 | 38.57 | 5.294e-10 | 1.211 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 5854 | 100749 | 31.57 | 1.925e-08 | 0.9032 |
| chr8:117640315 | rs11986063 | - | C>T | 1331 | 18739 | 28.61 | 8.869e-08 | 1.173 |
| chr14:99777178 | rs2089681 | - | A>G | 1909 | 27674 | 27.97 | 1.229e-07 | 1.145 |
| chr10:80819132 | rs704017 | - | G>A | 5261 | 90643 | 27.86 | 1.303e-07 | 0.9076 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 5013 | 86356 | 26.35 | 2.853e-07 | 0.9091 |
| chr9:10011536 | rs72692777 | PTPRD | T>C | 590 | 7822 | 24.01 | 9.574e-07 | 1.238 |
| chr8:145266722 | rs112996909 | MROH1 | A>G | 461 | 5977 | 22.87 | 1.733e-06 | 1.265 |
| chr10:60430441 | rs74629847 | BICC1 | A>G | 203 | 2348 | 22.33 | 2.295e-06 | 1.414 |
| chr12:4400808 | rs3217874 | AC008012.1 | C>T | 5993 | 92952 | 22.32 | 2.303e-06 | 1.089 |
| chr15:57385943 | rs72731917 | TCF12 | C>G | 484 | 6332 | 22.3 | 2.338e-06 | 1.254 |
| chr15:91135411 | rs6416553 | CRTC3 | T>C | 2166 | 32022 | 22.27 | 2.366e-06 | 1.121 |
| chr20:6404281 | rs961253 | - | C>A | 4964 | 76437 | 22.13 | 2.55e-06 | 1.091 |
| chr13:34719409 | rs79827966 | - | G>A | 377 | 7822 | 21.99 | 2.742e-06 | 0.7786 |
| chr17:76195908 | rs73381537 | AFMID | A>G | 598 | 11758 | 21.8 | 3.033e-06 | 0.8187 |
| chr1:10752990 | rs60449700 | CASZ1 | A>G | 612 | 8237 | 21.54 | 3.473e-06 | 1.22 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 4210 | 64449 | 21.5 | 3.535e-06 | 1.094 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C180 | Caecum | 1/20 |
| ICD: D120 | Caecum | 8/20 |
| ICD: D122 | Ascending colon | 9/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: C182 | Ascending colon | 0/20 |
| ICD-10: O40 | Polyhydramnios | 0/20 |
| ICD-10: R601 | Generalised oedema | 0/20 |
| ICD-10: Y846 | Urinary catheterisation | 0/20 |