Statistics
| Case | Control |
|---|---|
| 8984 | 451210 |
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 | 6243 | 287454 | 103.4 | 2.772e-24 | 1.173 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 8422 | 467681 | 98.05 | 4.087e-23 | 0.8631 |
| chr11:111165009 | rs7103178 | - | T>C | 6251 | 288632 | 97.32 | 5.896e-23 | 1.167 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 6755 | 315893 | 88.88 | 4.194e-21 | 1.156 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 324 | 27202 | 81.38 | 1.861e-19 | 0.6045 |
| chr15:48392165 | rs1834640 | - | A>G | 395 | 31229 | 76.27 | 2.469e-18 | 0.6419 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 983 | 66075 | 76.12 | 2.674e-18 | 0.7504 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 813 | 56179 | 75.75 | 3.212e-18 | 0.7311 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 216 | 19161 | 66.74 | 3.09e-16 | 0.574 |
| chr2:163216109 | rs3213843 | GCA | C>T | 115 | 12037 | 61.28 | 4.949e-15 | 0.4867 |
| chr16:28995057 | rs11859822 | SPNS1 | T>C | 384 | 29052 | 59.43 | 1.27e-14 | 0.672 |
| chr8:117630683 | rs16892766 | - | A>C | 1787 | 76910 | 59.24 | 1.399e-14 | 1.213 |
| chr16:28954860 | rs7203982 | - | T>C | 385 | 28997 | 58.44 | 2.098e-14 | 0.6745 |
| chr15:89154966 | rs7170666 | - | G>A | 743 | 50003 | 57.0 | 4.357e-14 | 0.7529 |
| chr1:64273591 | rs659592 | ROR1 | A>G | 445 | 32472 | 56.62 | 5.297e-14 | 0.6966 |
| chr15:45491394 | rs1648299 | SHF | T>C | 197 | 16962 | 54.17 | 1.835e-13 | 0.592 |
| chr17:5865515 | rs723656 | AC007846.2 | G>A | 531 | 37265 | 53.86 | 2.152e-13 | 0.7232 |
| chr3:30822859 | rs13316876 | GADL1 | T>C | 624 | 42702 | 53.44 | 2.672e-13 | 0.7417 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 172 | 15245 | 52.74 | 3.801e-13 | 0.5755 |
| chr11:111213944 | rs12365324 | - | G>A | 7805 | 375796 | 52.64 | 4.015e-13 | 1.115 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 6004 | 272139 | 88.55 | 4.957e-21 | 1.162 |
| chr11:111165009 | rs7103178 | - | T>C | 6008 | 272785 | 84.5 | 3.834e-20 | 1.158 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 7972 | 430706 | 78.49 | 8.054e-19 | 0.8741 |
| chr8:117630683 | rs16892766 | - | A>C | 1724 | 71388 | 68.28 | 1.416e-16 | 1.235 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 6577 | 304603 | 66.34 | 3.797e-16 | 1.136 |
| chr8:117640315 | rs11986063 | - | C>T | 1863 | 78523 | 61.75 | 3.891e-15 | 1.214 |
| chr10:8701219 | rs10795668 | - | G>A | 5416 | 294058 | 47.15 | 6.589e-12 | 0.8934 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 8221 | 434540 | 40.8 | 1.683e-10 | 0.9079 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 7645 | 363135 | 39.28 | 3.667e-10 | 1.1 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 3666 | 167556 | 39.09 | 4.057e-10 | 1.124 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 7651 | 363489 | 37.8 | 7.838e-10 | 1.098 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 7653 | 363925 | 37.4 | 9.634e-10 | 1.098 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 4438 | 241085 | 37.13 | 1.104e-09 | 0.8991 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 8408 | 442624 | 36.15 | 1.826e-09 | 0.9132 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 3723 | 204033 | 36.07 | 1.904e-09 | 0.8944 |
| chr15:32992658 | rs28399071 | - | G>A | 1912 | 84179 | 35.52 | 2.519e-09 | 1.157 |
| chr20:60920700 | rs6143035 | LAMA5 | T>C | 4089 | 222486 | 34.02 | 5.446e-09 | 0.9005 |
| chr18:60845776 | rs72943036 | BCL2 | C>T | 1339 | 78360 | 33.85 | 5.964e-09 | 0.8466 |
| chr11:111213944 | rs12365324 | - | G>A | 7665 | 365814 | 33.57 | 6.877e-09 | 1.092 |
| chr10:101246530 | rs12253147 | - | T>C | 2160 | 96580 | 31.98 | 1.556e-08 | 1.14 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 6004 | 63237 | 73.83 | 8.503e-18 | 1.152 |
| chr11:111165009 | rs7103178 | - | T>C | 6008 | 63398 | 69.82 | 6.495e-17 | 1.148 |
| chr8:117630683 | rs16892766 | - | A>C | 1724 | 16544 | 61.3 | 4.905e-15 | 1.231 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 7972 | 98596 | 55.78 | 8.102e-14 | 0.8896 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 6577 | 70697 | 55.11 | 1.138e-13 | 1.128 |
| chr8:117640315 | rs11986063 | - | C>T | 1863 | 18201 | 55.1 | 1.146e-13 | 1.21 |
| chr10:8701219 | rs10795668 | - | G>A | 5416 | 67713 | 40.91 | 1.592e-10 | 0.8974 |
| chr18:60845776 | rs72943036 | BCL2 | C>T | 1339 | 18115 | 32.49 | 1.198e-08 | 0.8456 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 7645 | 84419 | 28.89 | 7.647e-08 | 1.088 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 4438 | 55280 | 28.57 | 9.015e-08 | 0.9083 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 8221 | 99675 | 28.32 | 1.029e-07 | 0.9203 |
| chr11:111213944 | rs12365324 | - | G>A | 7665 | 84763 | 27.79 | 1.355e-07 | 1.087 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 7651 | 84558 | 26.95 | 2.089e-07 | 1.085 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 7653 | 84646 | 26.9 | 2.138e-07 | 1.085 |
| chr12:50901882 | rs10876041 | DIP2B | C>T | 6033 | 74008 | 26.41 | 2.762e-07 | 0.9188 |
| chr10:101246530 | rs12253147 | - | T>C | 2160 | 22476 | 26.06 | 3.317e-07 | 1.13 |
| chr10:8731255 | rs7912831 | - | T>C | 8877 | 99000 | 25.83 | 3.72e-07 | 1.083 |
| chr12:50906405 | rs10876044 | DIP2B | T>C | 6142 | 75174 | 25.27 | 4.99e-07 | 0.921 |
| chr8:117683144 | rs4289842 | EIF3H | A>C | 1841 | 19008 | 25.23 | 5.1e-07 | 1.138 |
| chr7:46866208 | rs9791388 | - | C>T | 5549 | 60695 | 24.97 | 5.811e-07 | 1.088 |
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 |