Statistics
| Female Case | Female Control | % Female |
|---|---|---|
| 3679 | 246178 | 41% |
| Male Case | Male Control | % Male |
|---|---|---|
| 5305 | 205032 | 59% |
Phenotype Definition
An ulcer of the colon due to pressure and irritation from retained fecal masses. [ORCID:0000-0001-5208-3432, PMID:7065551]
Phenotype Comment
Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 2601 | 157343 | 53.03 | 3.283e-13 | 1.194 |
| chr11:111165009 | rs7103178 | - | T>C | 2604 | 157977 | 50.31 | 1.315e-12 | 1.188 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 2806 | 172666 | 44.8 | 2.185e-11 | 1.174 |
| chr11:111213944 | rs12365324 | - | G>A | 3258 | 204847 | 35.79 | 2.195e-09 | 1.15 |
| chr11:111181120 | rs7947952 | - | T>C | 3329 | 244518 | 34.44 | 4.406e-09 | 0.8725 |
| chr11:111179054 | rs3087587 | COLCA2 | G>A | 3215 | 236185 | 31.48 | 2.015e-08 | 0.8773 |
| chr12:4706369 | rs7305150 | DYRK4 | T>C | 3494 | 255194 | 30.73 | 2.966e-08 | 0.8796 |
| chr5:40265904 | rs1348612 | - | A>G | 2357 | 145742 | 30.18 | 3.933e-08 | 1.147 |
| chr7:46866208 | rs9791388 | - | C>T | 2440 | 152235 | 27.3 | 1.746e-07 | 1.138 |
| chr11:111202486 | rs1893990 | - | C>T | 3692 | 236149 | 26.88 | 2.16e-07 | 1.127 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 3500 | 254450 | 26.73 | 2.343e-07 | 0.8872 |
| chr10:8741986 | rs35062044 | - | T>G | 1992 | 153213 | 25.77 | 3.855e-07 | 0.8726 |
| chr4:113868183 | rs77023571 | ANK2 | A>C | 41 | 6009 | 25.3 | 4.91e-07 | 0.4625 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 157 | 15887 | 25.22 | 5.119e-07 | 0.6675 |
| chr15:48392165 | rs1834640 | - | A>G | 183 | 17974 | 25.2 | 5.179e-07 | 0.6871 |
| chr8:117630683 | rs16892766 | - | A>C | 735 | 41921 | 25.18 | 5.232e-07 | 1.217 |
| chr1:64273591 | rs659592 | ROR1 | A>G | 184 | 18015 | 24.83 | 6.258e-07 | 0.6896 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 1539 | 117432 | 24.68 | 6.754e-07 | 0.8671 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 345 | 30495 | 24.49 | 7.477e-07 | 0.7608 |
| chr13:33170787 | rs76928565 | PDS5B | C>T | 451 | 24469 | 24.23 | 8.555e-07 | 1.272 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 2491 | 148860 | 45.15 | 1.825e-11 | 1.181 |
| chr11:111165009 | rs7103178 | - | T>C | 2495 | 149212 | 44.16 | 3.027e-11 | 1.179 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 2733 | 166619 | 36.09 | 1.884e-09 | 1.157 |
| chr11:111181120 | rs7947952 | - | T>C | 3125 | 224468 | 28.87 | 7.76e-08 | 0.8801 |
| chr8:117640315 | rs11986063 | - | C>T | 772 | 42894 | 28.5 | 9.384e-08 | 1.227 |
| chr8:117630683 | rs16892766 | - | A>C | 708 | 39018 | 28.43 | 9.737e-08 | 1.236 |
| chr11:111213944 | rs12365324 | - | G>A | 3204 | 199645 | 27.53 | 1.545e-07 | 1.132 |
| chr7:46866208 | rs9791388 | - | C>T | 2331 | 142329 | 27.49 | 1.579e-07 | 1.142 |
| chr10:8741986 | rs35062044 | - | T>G | 1930 | 145995 | 27.01 | 2.026e-07 | 0.8674 |
| chr10:8701219 | rs10795668 | - | G>A | 2184 | 160292 | 26.73 | 2.344e-07 | 0.8756 |
| chr11:111179054 | rs3087587 | COLCA2 | G>A | 3012 | 216179 | 25.61 | 4.18e-07 | 0.8861 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 1543 | 91909 | 25.13 | 5.366e-07 | 1.156 |
| chr5:40265904 | rs1348612 | - | A>G | 2313 | 141737 | 24.01 | 9.588e-07 | 1.132 |
| chr7:46826056 | rs1525231 | - | T>C | 2080 | 127244 | 22.86 | 1.739e-06 | 1.133 |
| chr12:4706369 | rs7305150 | DYRK4 | T>C | 3272 | 232853 | 22.66 | 1.931e-06 | 0.8935 |
| chr11:111202486 | rs1893990 | - | C>T | 3606 | 227612 | 22.08 | 2.617e-06 | 1.117 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 3303 | 234725 | 21.87 | 2.913e-06 | 0.8953 |
| chr6:36623379 | rs9470361 | - | G>A | 1916 | 116797 | 21.73 | 3.144e-06 | 1.133 |
| chr6:36622900 | rs1321311 | - | C>A | 1892 | 115315 | 21.32 | 3.882e-06 | 1.132 |
| chr7:101449071 | rs17135804 | - | G>A | 184 | 8791 | 21.05 | 4.486e-06 | 1.411 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 4922 | 213231 | 74.64 | 5.645e-18 | 0.8455 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 565 | 30286 | 54.93 | 1.248e-13 | 0.7248 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 3642 | 130111 | 53.57 | 2.498e-13 | 1.162 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 468 | 25684 | 52.42 | 4.472e-13 | 0.7093 |
| chr2:171380643 | rs34020565 | MYO3B | T>G | 160 | 11010 | 50.31 | 1.315e-12 | 0.5703 |
| chr11:111165009 | rs7103178 | - | T>C | 3647 | 130655 | 50.14 | 1.43e-12 | 1.156 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 167 | 11315 | 49.96 | 1.568e-12 | 0.5779 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 3949 | 143227 | 46.32 | 1.006e-11 | 1.147 |
| chr15:48392165 | rs1834640 | - | A>G | 212 | 13255 | 45.59 | 1.461e-11 | 0.6264 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 111 | 8229 | 45.23 | 1.752e-11 | 0.5298 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 102 | 7623 | 42.8 | 6.05e-11 | 0.5252 |
| chr17:9586811 | rs73975789 | USP43 | A>G | 74 | 6148 | 42.65 | 6.549e-11 | 0.4729 |
| chr16:29035406 | rs74014848 | - | A>G | 137 | 9352 | 41.95 | 9.356e-11 | 0.5747 |
| chr3:123429182 | rs820338 | MYLK | C>T | 104 | 7651 | 41.39 | 1.249e-10 | 0.5337 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 133 | 9096 | 41.18 | 1.388e-10 | 0.5731 |
| chr3:30822859 | rs13316876 | GADL1 | T>C | 342 | 19047 | 41.05 | 1.482e-10 | 0.7023 |
| chr17:21433779 | rs7207358 | - | T>C | 76 | 6137 | 40.27 | 2.209e-10 | 0.487 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 140 | 9384 | 39.94 | 2.614e-10 | 0.5855 |
| chr2:163216109 | rs3213843 | GCA | C>T | 57 | 5066 | 39.49 | 3.29e-10 | 0.442 |
| chr18:74764139 | rs11150998 | MBP | C>A | 162 | 10432 | 39.23 | 3.763e-10 | 0.6098 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 4669 | 195981 | 58.87 | 1.685e-14 | 0.8589 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 3513 | 123279 | 45.35 | 1.645e-11 | 1.151 |
| chr11:111165009 | rs7103178 | - | T>C | 3513 | 123573 | 42.42 | 7.371e-11 | 1.146 |
| chr8:117630683 | rs16892766 | - | A>C | 1016 | 32370 | 40.12 | 2.393e-10 | 1.236 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 4799 | 197245 | 34.34 | 4.629e-09 | 0.8907 |
| chr8:117640315 | rs11986063 | - | C>T | 1091 | 35629 | 33.57 | 6.864e-09 | 1.207 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 3844 | 137984 | 32.38 | 1.269e-08 | 1.124 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 2582 | 109832 | 32.14 | 1.437e-08 | 0.8783 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 4903 | 200889 | 32.04 | 1.511e-08 | 0.8943 |
| chr10:101247626 | rs77880513 | - | T>G | 1310 | 44023 | 28.13 | 1.137e-07 | 1.172 |
| chr10:101246530 | rs12253147 | - | T>C | 1313 | 44167 | 27.79 | 1.354e-07 | 1.171 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 3438 | 123295 | 27.22 | 1.811e-07 | 1.116 |
| chr10:101252385 | rs12261266 | - | A>G | 1327 | 44926 | 25.62 | 4.162e-07 | 1.163 |
| chr11:74414919 | rs11607100 | CHRDL2 | C>T | 339 | 17149 | 25.38 | 4.715e-07 | 0.7558 |
| chr1:204556958 | rs12566957 | - | T>C | 3454 | 143129 | 24.81 | 6.313e-07 | 0.9007 |
| chr18:60845776 | rs72943036 | BCL2 | C>T | 782 | 35896 | 24.79 | 6.398e-07 | 0.8296 |
| chr18:46370055 | rs4939820 | CTIF | T>G | 1816 | 63022 | 24.33 | 8.11e-07 | 1.138 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 4522 | 165185 | 24.24 | 8.501e-07 | 1.103 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 4535 | 165535 | 24.19 | 8.733e-07 | 1.103 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 4528 | 165362 | 23.87 | 1.032e-06 | 1.102 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C187 | Sigmoid colon | 3/20 |
| ICD: D125 | Sigmoid colon | 15/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: D127 | Rectosigmoid junction | 0/20 |
| ICD-10: K600 | Acute anal fissure | 0/20 |