Statistics
| Case | Control |
|---|---|
| 13435 | 446759 |
Phenotype Definition
Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. [HPO:probinson]
Phenotype Comment
Volvulus can lead to intestinal obstruction and ischemia.
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 | 12719 | 463384 | 134.0 | 5.328e-31 | 0.8684 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 9232 | 284465 | 111.9 | 3.781e-26 | 1.146 |
| chr11:111165009 | rs7103178 | - | T>C | 9259 | 285624 | 108.0 | 2.682e-25 | 1.143 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 10034 | 312614 | 100.6 | 1.104e-23 | 1.135 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 536 | 26990 | 86.76 | 1.227e-20 | 0.6653 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 1558 | 65500 | 77.59 | 1.268e-18 | 0.793 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 1297 | 55695 | 77.12 | 1.608e-18 | 0.7773 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 358 | 19019 | 74.28 | 6.762e-18 | 0.6321 |
| chr15:48392165 | rs1834640 | - | A>G | 658 | 30966 | 73.26 | 1.136e-17 | 0.712 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 347 | 17798 | 61.16 | 5.256e-15 | 0.6548 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 282 | 15135 | 61.05 | 5.564e-15 | 0.6264 |
| chr2:66725070 | rs12995572 | MEIS1 | G>C | 568 | 26583 | 60.7 | 6.638e-15 | 0.7173 |
| chr11:111213944 | rs12365324 | - | G>A | 11639 | 371962 | 60.39 | 7.789e-15 | 1.1 |
| chr9:137925543 | rs7027926 | - | G>A | 318 | 16502 | 59.15 | 1.463e-14 | 0.6476 |
| chr2:163216109 | rs3213843 | GCA | C>T | 209 | 11943 | 58.72 | 1.816e-14 | 0.5883 |
| chr11:111181120 | rs7947952 | - | T>C | 12492 | 443994 | 56.89 | 4.606e-14 | 0.9121 |
| chr2:226686177 | rs7581591 | - | T>C | 394 | 19441 | 56.65 | 5.203e-14 | 0.6815 |
| chr11:111179054 | rs3087587 | COLCA2 | G>A | 12045 | 428807 | 55.68 | 8.516e-14 | 0.9127 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 8757 | 276782 | 55.52 | 9.262e-14 | 1.102 |
| chr16:9229056 | rs9925564 | - | A>G | 480 | 22775 | 55.46 | 9.521e-14 | 0.7084 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 11960 | 426718 | 110.7 | 6.745e-26 | 0.877 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 8855 | 269288 | 98.73 | 2.889e-23 | 1.14 |
| chr11:111165009 | rs7103178 | - | T>C | 8870 | 269923 | 95.97 | 1.165e-22 | 1.138 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 9748 | 301432 | 77.77 | 1.159e-18 | 1.12 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 12330 | 430431 | 54.55 | 1.512e-13 | 0.9123 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 12590 | 438442 | 51.54 | 7.006e-13 | 0.9147 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 6690 | 238833 | 44.63 | 2.384e-11 | 0.9088 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 10528 | 332463 | 43.14 | 5.101e-11 | 1.087 |
| chr10:8701219 | rs10795668 | - | G>A | 8245 | 291229 | 42.88 | 5.823e-11 | 0.9159 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 11334 | 359446 | 42.11 | 8.64e-11 | 1.085 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 8556 | 268223 | 41.61 | 1.115e-10 | 1.09 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 11351 | 360227 | 40.19 | 2.299e-10 | 1.083 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 11343 | 359797 | 40.17 | 2.329e-10 | 1.083 |
| chr8:117630683 | rs16892766 | - | A>C | 2411 | 70701 | 39.96 | 2.598e-10 | 1.147 |
| chr11:111213944 | rs12365324 | - | G>A | 11402 | 362077 | 39.82 | 2.781e-10 | 1.082 |
| chr8:117640315 | rs11986063 | - | C>T | 2631 | 77755 | 39.08 | 4.06e-10 | 1.139 |
| chr20:6377965 | rs432266 | - | C>T | 9234 | 291260 | 38.69 | 4.978e-10 | 1.085 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 5389 | 165833 | 38.28 | 6.129e-10 | 1.1 |
| chr11:111181120 | rs7947952 | - | T>C | 11743 | 407346 | 38.23 | 6.29e-10 | 0.9256 |
| chr20:6404281 | rs961253 | - | C>A | 10048 | 318499 | 36.09 | 1.888e-09 | 1.08 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 11960 | 134864 | 95.22 | 1.701e-22 | 0.8821 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 8855 | 85696 | 84.98 | 3.007e-20 | 1.134 |
| chr11:111165009 | rs7103178 | - | T>C | 8870 | 85904 | 82.03 | 1.339e-19 | 1.131 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 9748 | 95861 | 66.55 | 3.406e-16 | 1.115 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 12330 | 135940 | 43.57 | 4.094e-11 | 0.9189 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 6690 | 75712 | 41.99 | 9.171e-11 | 0.9089 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 12590 | 138480 | 41.15 | 1.412e-10 | 0.9212 |
| chr10:8701219 | rs10795668 | - | G>A | 8245 | 92349 | 41.04 | 1.491e-10 | 0.9152 |
| chr8:117630683 | rs16892766 | - | A>C | 2411 | 22301 | 40.33 | 2.144e-10 | 1.153 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 8556 | 84988 | 39.38 | 3.495e-10 | 1.09 |
| chr8:117640315 | rs11986063 | - | C>T | 2631 | 24561 | 38.68 | 4.991e-10 | 1.144 |
| chr11:111213944 | rs12365324 | - | G>A | 11402 | 114721 | 38.21 | 6.363e-10 | 1.083 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 10528 | 105601 | 37.25 | 1.037e-09 | 1.083 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 11334 | 114134 | 36.76 | 1.339e-09 | 1.082 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 11351 | 114434 | 34.42 | 4.442e-09 | 1.079 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 11343 | 114281 | 34.39 | 4.514e-09 | 1.079 |
| chr20:6404281 | rs961253 | - | C>A | 10048 | 101086 | 32.22 | 1.375e-08 | 1.078 |
| chr20:6377965 | rs432266 | - | C>T | 9234 | 92702 | 31.37 | 2.137e-08 | 1.078 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 13766 | 140092 | 31.04 | 2.533e-08 | 1.074 |
| chr12:50901882 | rs10876041 | DIP2B | C>T | 9103 | 100634 | 30.37 | 3.561e-08 | 0.9283 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C187 | Sigmoid colon | 2/20 |
| ICD: D123 | Transverse colon | 4/20 |
| ICD: D125 | Sigmoid colon | 11/20 |