Statistics
| Case | Control |
|---|---|
| 26739 | 433455 |
Phenotype Definition
The presence of multiple polyps in the large intestine. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 3135 | 63923 | 147.8 | 5.143e-34 | 0.7957 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 2646 | 54346 | 132.1 | 1.407e-30 | 0.7914 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 11568 | 208603 | 119.0 | 1.057e-27 | 0.8895 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 1187 | 26339 | 105.4 | 1.021e-24 | 0.7359 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 26099 | 450004 | 105.0 | 1.229e-24 | 0.9143 |
| chr5:33955673 | rs35391 | SLC45A2 | C>T | 1888 | 39092 | 99.64 | 1.827e-23 | 0.7876 |
| chr5:33955326 | rs35390 | SLC45A2 | A>C | 1901 | 39246 | 98.03 | 4.13e-23 | 0.7897 |
| chr15:48392165 | rs1834640 | - | A>G | 1410 | 30214 | 97.8 | 4.628e-23 | 0.7618 |
| chr20:60920700 | rs6143035 | LAMA5 | T>C | 12877 | 227519 | 82.08 | 1.305e-19 | 0.9107 |
| chr20:60921044 | rs4925386 | LAMA5 | C>T | 17268 | 300963 | 81.81 | 1.496e-19 | 0.9183 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 4566 | 85542 | 80.5 | 2.901e-19 | 0.8675 |
| chr20:60958651 | rs11699160 | - | T>C | 19608 | 340083 | 78.54 | 7.833e-19 | 0.9222 |
| chr20:60898244 | rs57627107 | LAMA5 | A>G | 11921 | 211111 | 78.43 | 8.301e-19 | 0.9101 |
| chr20:60899182 | rs11698080 | LAMA5 | C>T | 11460 | 202603 | 78.08 | 9.878e-19 | 0.9088 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 11240 | 171246 | 77.37 | 1.417e-18 | 1.1 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 834 | 18543 | 74.37 | 6.467e-18 | 0.7361 |
| chr5:147671850 | rs7724380 | - | G>A | 875 | 19308 | 73.97 | 7.916e-18 | 0.7419 |
| chr9:99730155 | rs2486612 | - | G>A | 1356 | 27963 | 68.16 | 1.504e-16 | 0.793 |
| chr9:129557967 | rs7863211 | - | G>A | 837 | 18365 | 68.16 | 1.507e-16 | 0.746 |
| chr16:28995057 | rs11859822 | SPNS1 | T>C | 1363 | 28073 | 67.92 | 1.701e-16 | 0.7938 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 11060 | 196696 | 116.2 | 4.285e-27 | 0.8884 |
| chr15:32994756 | rs4779584 | - | C>T | 10953 | 163222 | 89.49 | 3.086e-21 | 1.11 |
| chr20:60920700 | rs6143035 | LAMA5 | T>C | 12289 | 214286 | 82.05 | 1.326e-19 | 0.9086 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 10726 | 160496 | 79.59 | 4.6e-19 | 1.105 |
| chr20:60898244 | rs57627107 | LAMA5 | A>G | 11411 | 199224 | 77.16 | 1.577e-18 | 0.9089 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 24509 | 414169 | 75.98 | 2.864e-18 | 0.9249 |
| chr20:60899182 | rs11698080 | LAMA5 | C>T | 10973 | 191127 | 75.3 | 4.049e-18 | 0.9084 |
| chr15:33066195 | rs75798403 | FMN1 | C>A | 7592 | 112177 | 70.87 | 3.821e-17 | 1.114 |
| chr15:32992658 | rs28399071 | - | G>A | 5516 | 80575 | 61.62 | 4.174e-15 | 1.122 |
| chr20:60921044 | rs4925386 | LAMA5 | C>T | 16061 | 274008 | 59.15 | 1.464e-14 | 0.928 |
| chr20:60958651 | rs11699160 | - | T>C | 18213 | 309405 | 55.94 | 7.483e-14 | 0.932 |
| chr8:117630683 | rs16892766 | - | A>C | 4688 | 68424 | 52.44 | 4.44e-13 | 1.121 |
| chr20:60986019 | rs2236200 | RBBP8NL | A>C | 13171 | 225134 | 47.75 | 4.84e-12 | 0.9311 |
| chr20:60894470 | rs2297588 | LAMA5 | C>T | 16214 | 275246 | 47.71 | 4.951e-12 | 0.9352 |
| chr7:46866208 | rs9791388 | - | C>T | 16214 | 250754 | 47.18 | 6.465e-12 | 1.069 |
| chr7:46919215 | rs6463354 | - | G>A | 21521 | 336081 | 46.29 | 1.022e-11 | 1.064 |
| chr5:134458908 | rs646506 | - | A>G | 24943 | 417253 | 43.4 | 4.464e-11 | 0.9428 |
| chr6:55708497 | rs2023523 | BMP5 | A>G | 20726 | 348287 | 42.19 | 8.28e-11 | 0.9423 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 13634 | 231889 | 40.89 | 1.61e-10 | 0.9367 |
| chr7:46826056 | rs1525231 | - | T>C | 14494 | 224173 | 40.42 | 2.045e-10 | 1.066 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:155178782 | rs760077 | THBS3 | T>A | 21266 | 4132 | 68.49 | 1.278e-16 | 1.193 |
| chr2:213249549 | rs1505351 | ERBB4 | C>T | 10772 | 2703 | 59.29 | 1.36e-14 | 0.8283 |
| chr1:155151493 | rs11264341 | AL713999.1 | C>T | 22746 | 5343 | 52.43 | 4.466e-13 | 0.8613 |
| chr1:155162067 | rs4072037 | MUC1 | T>C | 24701 | 4943 | 47.26 | 6.22e-12 | 1.153 |
| chr2:213253406 | rs12694279 | ERBB4 | A>C | 24533 | 4933 | 41.86 | 9.783e-11 | 1.143 |
| chr1:155194980 | rs2049805 | - | C>T | 25785 | 5228 | 40.91 | 1.593e-10 | 1.142 |
| chr2:213171295 | rs982765 | ERBB4 | G>T | 5369 | 1366 | 33.9 | 5.798e-09 | 0.829 |
| chr20:6671666 | rs6054462 | - | T>C | 14431 | 2825 | 32.36 | 1.281e-08 | 1.145 |
| chr20:60968596 | rs1570027 | CABLES2 | A>G | 11060 | 2653 | 28.04 | 1.189e-07 | 0.8781 |
| chr1:155033308 | rs11589479 | ADAM15 | G>A | 8656 | 1649 | 27.43 | 1.633e-07 | 1.164 |
| chr2:213204955 | rs4672645 | ERBB4 | C>T | 21681 | 4401 | 25.58 | 4.251e-07 | 1.113 |
| chr1:155140648 | rs11264339 | - | C>T | 25981 | 5921 | 24.59 | 7.107e-07 | 0.9033 |
| chr22:32952012 | rs2157189 | SYN3 | C>A | 18173 | 3659 | 24.02 | 9.532e-07 | 1.114 |
| chr1:155132836 | rs12028043 | - | A>G | 21544 | 4944 | 22.58 | 2.018e-06 | 0.906 |
| chr2:213298393 | rs4106226 | ERBB4 | A>G | 25057 | 5145 | 22.49 | 2.117e-06 | 1.103 |
| chr6:31274693 | rs3094691 | HLA-B | G>A | 22743 | 5202 | 22.03 | 2.684e-06 | 0.9076 |
| chr14:71769989 | rs72728427 | - | T>C | 12858 | 2555 | 21.87 | 2.912e-06 | 1.122 |
| chr1:155058663 | rs17723260 | AL691442.2 | G>A | 7301 | 1773 | 21.73 | 3.137e-06 | 0.8748 |
| chr14:72039689 | rs1981588 | SIPA1L1 | A>G | 12737 | 2527 | 21.64 | 3.285e-06 | 1.122 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 24509 | 5579 | 21.5 | 3.534e-06 | 0.909 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: K621 | Rectal polyp | 12/20 |
| ICD: K635 | Polyp of colon | 14/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: C185 | Splenic flexure | 0/20 |
| ICD-10: I269 | Pulmonary embolism without mention of acute cor pulmonale | 0/20 |
| ICD-10: I279 | Pulmonary heart disease, unspecified | 0/20 |