Statistics
| Case | Control |
|---|---|
| 9997 | 450197 |
Phenotype Definition
An abnormal closure, or atresia of the tubular structure of the intestine. [HPO:probinson]
Phenotype Comment
Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen.
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 | 9481 | 466622 | 113.8 | 1.475e-26 | 0.861 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 7485 | 315163 | 63.85 | 1.339e-15 | 1.124 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 9400 | 453693 | 62.98 | 2.092e-15 | 0.8947 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 9627 | 463514 | 60.14 | 8.817e-15 | 0.8971 |
| chr11:111165009 | rs7103178 | - | T>C | 6842 | 288041 | 56.46 | 5.723e-14 | 1.118 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 6810 | 286887 | 55.05 | 1.175e-13 | 1.117 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 8322 | 354365 | 54.65 | 1.439e-13 | 1.111 |
| chr20:6377965 | rs432266 | - | C>T | 7162 | 304552 | 46.7 | 8.258e-12 | 1.106 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 5090 | 250278 | 42.4 | 7.424e-11 | 0.8995 |
| chr17:10707241 | rs1078643 | TMEM238L | A>G | 4990 | 245696 | 41.9 | 9.613e-11 | 0.8994 |
| chr20:6404281 | rs961253 | - | C>A | 7870 | 337680 | 41.12 | 1.433e-10 | 1.097 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 8033 | 385370 | 38.85 | 4.57e-10 | 0.9142 |
| chr11:111213944 | rs12365324 | - | G>A | 8669 | 374932 | 35.52 | 2.527e-09 | 1.088 |
| chr1:22698447 | rs7524102 | - | A>G | 3455 | 172180 | 35.09 | 3.142e-09 | 0.8946 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 6558 | 280557 | 33.44 | 7.364e-09 | 1.091 |
| chr2:199231431 | rs2467041 | PLCL1 | T>C | 7749 | 333958 | 33.29 | 7.956e-09 | 1.087 |
| chr1:22711473 | rs6426749 | - | G>C | 3458 | 171935 | 33.28 | 7.985e-09 | 0.8973 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 8801 | 381351 | 32.13 | 1.441e-08 | 1.084 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 10825 | 473606 | 31.96 | 1.576e-08 | 1.082 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 8807 | 382076 | 31.49 | 2.006e-08 | 1.083 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 8826 | 429852 | 100.6 | 1.101e-23 | 0.8654 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 9033 | 433728 | 70.32 | 5.041e-17 | 0.8865 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 9222 | 441810 | 67.68 | 1.926e-16 | 0.8887 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 7974 | 335017 | 59.12 | 1.486e-14 | 1.119 |
| chr11:111165009 | rs7103178 | - | T>C | 6533 | 272260 | 54.85 | 1.299e-13 | 1.12 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 7248 | 303932 | 54.1 | 1.903e-13 | 1.116 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 6510 | 271633 | 52.81 | 3.671e-13 | 1.117 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 4910 | 240613 | 47.77 | 4.789e-12 | 0.8916 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 7689 | 366807 | 43.44 | 4.371e-11 | 0.9074 |
| chr20:6377965 | rs432266 | - | C>T | 6937 | 293557 | 39.8 | 2.807e-10 | 1.1 |
| chr20:6404281 | rs961253 | - | C>A | 7545 | 321002 | 38.4 | 5.769e-10 | 1.096 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 10324 | 445409 | 38.33 | 5.984e-10 | 1.093 |
| chr2:199231431 | rs2467041 | PLCL1 | T>C | 7412 | 315837 | 33.82 | 6.036e-09 | 1.09 |
| chr17:10707241 | rs1078643 | TMEM238L | A>G | 4503 | 218457 | 32.46 | 1.216e-08 | 0.9072 |
| chr20:6693128 | rs6085661 | - | C>T | 7980 | 342448 | 30.89 | 2.733e-08 | 1.085 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 8445 | 362695 | 30.18 | 3.934e-08 | 1.083 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 8426 | 362354 | 29.46 | 5.719e-08 | 1.082 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 8443 | 363135 | 29.27 | 6.309e-08 | 1.081 |
| chr18:46382559 | Affx-14975491 | CTIF | G>A | 4977 | 209479 | 28.9 | 7.615e-08 | 1.093 |
| chr3:40915239 | rs35470271 | - | A>G | 3178 | 130947 | 28.81 | 7.974e-08 | 1.111 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 8826 | 138308 | 87.09 | 1.038e-20 | 0.8715 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 9033 | 139548 | 59.47 | 1.243e-14 | 0.8929 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 9222 | 142166 | 57.34 | 3.66e-14 | 0.8948 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 7974 | 108395 | 53.2 | 3.017e-13 | 1.115 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 7248 | 98570 | 45.4 | 1.603e-11 | 1.108 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 4910 | 77676 | 45.35 | 1.65e-11 | 0.8921 |
| chr11:111165009 | rs7103178 | - | T>C | 6533 | 88424 | 44.92 | 2.049e-11 | 1.11 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 6510 | 88221 | 43.27 | 4.776e-11 | 1.108 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 7689 | 118070 | 37.29 | 1.017e-09 | 0.9121 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 10324 | 143853 | 36.23 | 1.758e-09 | 1.092 |
| chr20:6404281 | rs961253 | - | C>A | 7545 | 103828 | 34.68 | 3.889e-09 | 1.093 |
| chr20:6377965 | rs432266 | - | C>T | 6937 | 95223 | 33.02 | 9.119e-09 | 1.092 |
| chr17:10707241 | rs1078643 | TMEM238L | A>G | 4503 | 70555 | 31.32 | 2.192e-08 | 0.9069 |
| chr2:199231431 | rs2467041 | PLCL1 | T>C | 7412 | 102171 | 30.33 | 3.64e-08 | 1.087 |
| chr17:77921593 | rs117000719 | TBC1D16 | C>T | 395 | 4400 | 26.63 | 2.458e-07 | 1.314 |
| chr10:8731255 | rs7912831 | - | T>C | 9835 | 137888 | 26.29 | 2.943e-07 | 1.079 |
| chr1:69293805 | rs111896058 | - | T>C | 303 | 3248 | 26.19 | 3.088e-07 | 1.361 |
| chr20:5948227 | rs16991615 | MCM8 | G>A | 1473 | 18732 | 26.1 | 3.238e-07 | 1.154 |
| chr5:40265904 | rs1348612 | - | A>G | 6088 | 83603 | 26.03 | 3.355e-07 | 1.085 |
| chr18:46382559 | Affx-14975491 | CTIF | G>A | 4977 | 67778 | 26.02 | 3.372e-07 | 1.09 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: D122 | Ascending colon | 11/20 |
| ICD: D123 | Transverse colon | 12/20 |
| ICD: D124 | Descending colon | 4/20 |