Statistics
| Case | Control |
|---|---|
| 8331 | 451863 |
Phenotype Definition
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. [HPO:probinson, PMID:12438031]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr7:12317890 | rs72584561 | - | A>G | 420 | 30614 | 34.83 | 3.591e-09 | 0.7464 |
| chr5:40265904 | rs1348612 | - | A>G | 5204 | 267599 | 29.53 | 5.498e-08 | 1.095 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 1025 | 66033 | 28.27 | 1.053e-07 | 0.8417 |
| chr4:44497120 | rs73247586 | - | A>G | 525 | 23043 | 26.21 | 3.07e-07 | 1.257 |
| chr8:117555103 | rs17735978 | - | G>A | 6451 | 336190 | 25.26 | 5.01e-07 | 1.083 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 8145 | 464996 | 25.16 | 5.268e-07 | 0.9261 |
| chr15:101445815 | rs3803430 | ALDH1A3 | A>G | 393 | 27659 | 25.01 | 5.715e-07 | 0.7739 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 7967 | 455126 | 24.98 | 5.805e-07 | 0.9263 |
| chr11:2819295 | rs116463395 | KCNQ1 | G>T | 438 | 30232 | 23.78 | 1.08e-06 | 0.7889 |
| chr13:103555432 | rs7999760 | - | G>A | 181 | 14188 | 23.24 | 1.431e-06 | 0.6973 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 6804 | 355883 | 23.14 | 1.503e-06 | 1.078 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 1433 | 88675 | 23.11 | 1.533e-06 | 0.875 |
| chr11:64597506 | rs3741395 | CDC42BPG | C>T | 6591 | 378275 | 22.85 | 1.747e-06 | 0.9275 |
| chr20:55795918 | rs172982 | BMP7 | G>A | 7397 | 388296 | 22.46 | 2.143e-06 | 1.076 |
| chr4:111728614 | rs13141190 | - | G>A | 6766 | 354187 | 22.34 | 2.286e-06 | 1.077 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 6071 | 316577 | 22.34 | 2.279e-06 | 1.079 |
| chr3:66430236 | Affx-22621669 | SLC25A26 | C>T | 1390 | 67685 | 21.69 | 3.201e-06 | 1.141 |
| chr13:72463541 | rs1460465 | - | A>G | 211 | 15913 | 21.67 | 3.232e-06 | 0.7238 |
| chr5:115535263 | rs114842260 | COMMD10 | G>T | 692 | 31802 | 21.63 | 3.298e-06 | 1.2 |
| chr19:49232226 | rs2287922 | RASIP1 | A>G | 8068 | 459395 | 21.58 | 3.394e-06 | 0.9313 |
| chr4:111728614 | rs13141190 | - | G>A | 6230 | 319762 | 28.79 | 8.058e-08 | 1.091 |
| chr4:111641053 | rs1448817 | - | A>G | 4397 | 222844 | 26.05 | 3.334e-07 | 1.095 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 7838 | 443194 | 25.79 | 3.815e-07 | 0.9235 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 7690 | 435071 | 25.71 | 3.969e-07 | 0.9236 |
| chr13:103555432 | rs7999760 | - | G>A | 158 | 12670 | 24.31 | 8.205e-07 | 0.6743 |
| chr4:44497120 | rs73247586 | - | A>G | 515 | 22575 | 23.59 | 1.192e-06 | 1.245 |
| chr4:111719685 | rs11931959 | - | A>G | 4763 | 243423 | 22.14 | 2.535e-06 | 1.085 |
| chr5:40265904 | rs1348612 | - | A>G | 5062 | 259714 | 21.98 | 2.755e-06 | 1.083 |
| chr20:55795918 | rs172982 | BMP7 | G>A | 7140 | 370747 | 21.93 | 2.834e-06 | 1.077 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 6498 | 336493 | 21.33 | 3.869e-06 | 1.077 |
| chr21:33500132 | rs146340478 | - | C>T | 212 | 15732 | 21.03 | 4.533e-06 | 0.7278 |
| chr11:111165009 | rs7103178 | - | T>C | 5309 | 273484 | 20.06 | 7.486e-06 | 1.078 |
| chr2:115434774 | rs62165216 | DPP10 | G>A | 490 | 32352 | 19.48 | 1.018e-05 | 0.8158 |
| chr5:115535263 | rs114842260 | COMMD10 | G>T | 671 | 30747 | 19.07 | 1.258e-05 | 1.19 |
| chr10:121248309 | rs3009888 | - | C>T | 3677 | 186847 | 18.79 | 1.458e-05 | 1.085 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 5290 | 272853 | 18.69 | 1.539e-05 | 1.075 |
| chr1:187697642 | rs10798134 | - | C>G | 4999 | 285415 | 18.66 | 1.562e-05 | 0.9289 |
| chr3:66430236 | Affx-22621669 | SLC25A26 | C>T | 1372 | 66612 | 18.66 | 1.562e-05 | 1.131 |
| chr7:8266557 | rs3807817 | ICA1 | G>A | 530 | 23852 | 18.61 | 1.605e-05 | 1.212 |
| chr11:2819295 | rs116463395 | KCNQ1 | G>T | 399 | 26795 | 18.6 | 1.613e-05 | 0.8027 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr4:111728614 | rs13141190 | - | G>A | 6230 | 103956 | 26.36 | 2.831e-07 | 1.088 |
| chr4:44497120 | rs73247586 | - | A>G | 515 | 7245 | 25.08 | 5.501e-07 | 1.26 |
| chr4:111641053 | rs1448817 | - | A>G | 4397 | 72386 | 24.73 | 6.582e-07 | 1.094 |
| chr13:103555432 | rs7999760 | - | G>A | 158 | 4086 | 22.85 | 1.752e-06 | 0.6791 |
| chr4:111719685 | rs11931959 | - | A>G | 4763 | 78876 | 22.75 | 1.846e-06 | 1.088 |
| chr5:40265904 | rs1348612 | - | A>G | 5062 | 84449 | 19.92 | 8.073e-06 | 1.08 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 7838 | 143232 | 19.44 | 1.038e-05 | 0.932 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 7690 | 140580 | 19.19 | 1.186e-05 | 0.9324 |
| chr5:481610 | rs6872510 | SLC9A3 | C>T | 2015 | 32249 | 19.1 | 1.241e-05 | 1.113 |
| chr20:55795918 | rs172982 | BMP7 | G>A | 7140 | 120641 | 19.05 | 1.272e-05 | 1.073 |
| chr20:5530297 | rs56208317 | GPCPD1 | G>A | 684 | 10181 | 18.75 | 1.49e-05 | 1.191 |
| chr1:187697642 | rs10798134 | - | C>G | 4999 | 92718 | 18.42 | 1.771e-05 | 0.9281 |
| chr11:42437799 | rs1355053 | - | C>T | 4484 | 83433 | 18.34 | 1.85e-05 | 0.926 |
| chr6:40301923 | rs116406703 | - | G>A | 366 | 5130 | 17.99 | 2.218e-05 | 1.261 |
| chr8:117555103 | rs17735978 | - | G>A | 6267 | 105644 | 17.96 | 2.261e-05 | 1.072 |
| chr8:131691524 | rs28428945 | - | A>C | 2439 | 39569 | 17.91 | 2.311e-05 | 1.1 |
| chr20:52847652 | rs2585419 | - | G>A | 170 | 4152 | 17.86 | 2.381e-05 | 0.7183 |
| chr5:459793 | rs2561664 | EXOC3 | C>T | 2013 | 32340 | 17.84 | 2.405e-05 | 1.109 |
| chr15:91135411 | rs6416553 | CRTC3 | T>C | 2695 | 43958 | 17.7 | 2.582e-05 | 1.095 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 6498 | 109631 | 17.54 | 2.811e-05 | 1.071 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: D122 | Ascending colon | 2/20 |
| ICD: K359 | Acute appendicitis, unspecified | 1/20 |