Statistics
| Case | Control |
|---|---|
| 5524 | 454670 |
Phenotype Definition
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. [HPO:sdoelken, PMID:17768394]
Phenotype Comment
Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:136149399 | rs507666 | ABO | G>A | 2667 | 173319 | 214.8 | 1.213e-48 | 1.384 |
| chr9:136154867 | rs495828 | - | G>T | 2938 | 196150 | 192.9 | 7.515e-44 | 1.347 |
| chr9:136155000 | rs635634 | - | C>T | 2611 | 172082 | 191.4 | 1.567e-43 | 1.363 |
| chr9:136153875 | rs651007 | - | C>T | 2934 | 196522 | 188.8 | 5.712e-43 | 1.343 |
| chr9:136154168 | rs579459 | - | T>C | 2929 | 196519 | 185.8 | 2.578e-42 | 1.34 |
| chr9:136149229 | rs505922 | ABO | T>C | 4341 | 308719 | 178.8 | 9.02e-41 | 1.295 |
| chr9:136137065 | rs687621 | ABO | A>G | 4367 | 311598 | 174.7 | 6.921e-40 | 1.292 |
| chr9:136143442 | rs612169 | ABO | A>G | 4373 | 312081 | 174.1 | 9.64e-40 | 1.29 |
| chr9:136132908 | rs8176719 | ABO | T>TC | 4559 | 328228 | 163.0 | 2.505e-37 | 1.278 |
| chr9:136142203 | rs514659 | ABO | A>C | 4205 | 300715 | 162.1 | 3.924e-37 | 1.283 |
| chr9:136139265 | rs657152 | ABO | C>A | 4580 | 330802 | 162.0 | 4.194e-37 | 1.276 |
| chr1:169519049 | rs6025 | F5 | C>T | 455 | 21258 | 161.9 | 4.338e-37 | 1.833 |
| chr9:136142355 | rs643434 | ABO | G>A | 4599 | 332205 | 160.6 | 8.344e-37 | 1.274 |
| chr4:155525276 | rs2066865 | - | G>A | 3320 | 233076 | 141.5 | 1.262e-32 | 1.279 |
| chr4:155542248 | rs7681423 | - | C>T | 3291 | 231760 | 136.9 | 1.298e-31 | 1.275 |
| chr4:155507590 | rs6050 | FGA | T>C | 3441 | 243838 | 132.0 | 1.531e-30 | 1.265 |
| chr4:155514879 | rs13109457 | - | G>A | 3432 | 244415 | 126.2 | 2.832e-29 | 1.259 |
| chr4:187207381 | rs2289252 | F11 | C>T | 5065 | 379292 | 113.5 | 1.694e-26 | 1.223 |
| chr9:136237672 | rs56343119 | SURF4 | C>A | 1944 | 131046 | 110.1 | 9.429e-26 | 1.3 |
| chr4:187188094 | rs4253399 | F11 | T>G | 4830 | 361108 | 106.9 | 4.712e-25 | 1.217 |
| chr9:136149399 | rs507666 | ABO | G>A | 2599 | 165525 | 207.7 | 4.346e-47 | 1.383 |
| chr9:136154867 | rs495828 | - | G>T | 2866 | 187282 | 188.4 | 7.074e-43 | 1.349 |
| chr9:136155000 | rs635634 | - | C>T | 2547 | 164415 | 186.0 | 2.342e-42 | 1.363 |
| chr9:136143442 | rs612169 | ABO | A>G | 4177 | 288966 | 184.5 | 5.091e-42 | 1.307 |
| chr9:136153875 | rs651007 | - | C>T | 2861 | 187545 | 184.3 | 5.517e-42 | 1.344 |
| chr9:136137065 | rs687621 | ABO | A>G | 4168 | 288579 | 183.1 | 1.013e-41 | 1.307 |
| chr9:136149229 | rs505922 | ABO | T>C | 4159 | 287734 | 182.8 | 1.166e-41 | 1.306 |
| chr9:136154168 | rs579459 | - | T>C | 2857 | 187576 | 181.9 | 1.906e-41 | 1.342 |
| chr9:136142203 | rs514659 | ABO | A>C | 4026 | 279108 | 172.1 | 2.576e-39 | 1.3 |
| chr9:136139265 | rs657152 | ABO | C>A | 4384 | 307587 | 169.7 | 8.705e-39 | 1.29 |
| chr9:136142355 | rs643434 | ABO | G>A | 4401 | 308623 | 169.2 | 1.093e-38 | 1.289 |
| chr9:136132908 | rs8176719 | ABO | T>TC | 4383 | 307900 | 162.9 | 2.597e-37 | 1.284 |
| chr1:169519049 | rs6025 | F5 | C>T | 447 | 20635 | 153.8 | 2.524e-35 | 1.816 |
| chr4:155525276 | rs2066865 | - | G>A | 3177 | 216383 | 147.8 | 5.338e-34 | 1.293 |
| chr4:155542248 | rs7681423 | - | C>T | 3166 | 216123 | 145.3 | 1.859e-33 | 1.291 |
| chr4:155507590 | rs6050 | FGA | T>C | 3288 | 225854 | 140.1 | 2.531e-32 | 1.281 |
| chr4:155514879 | rs13109457 | - | G>A | 3307 | 228733 | 132.6 | 1.101e-30 | 1.272 |
| chr4:187207381 | rs2289252 | F11 | C>T | 4941 | 362809 | 107.9 | 2.864e-25 | 1.221 |
| chr9:136237672 | rs56343119 | SURF4 | C>A | 1894 | 125436 | 103.6 | 2.483e-24 | 1.295 |
| chr4:187188094 | rs4253399 | F11 | T>G | 4732 | 347915 | 97.72 | 4.828e-23 | 1.211 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:136149399 | rs507666 | ABO | G>A | 2667 | 17740 | 210.4 | 1.145e-47 | 1.407 |
| chr9:136149229 | rs505922 | ABO | T>C | 4341 | 31455 | 194.1 | 4.007e-44 | 1.328 |
| chr9:136137065 | rs687621 | ABO | A>G | 4367 | 31734 | 192.2 | 1.037e-43 | 1.327 |
| chr9:136143442 | rs612169 | ABO | A>G | 4373 | 31796 | 190.7 | 2.268e-43 | 1.324 |
| chr9:136155000 | rs635634 | - | C>T | 2611 | 17605 | 189.3 | 4.499e-43 | 1.386 |
| chr9:136154867 | rs495828 | - | G>T | 2938 | 20139 | 187.0 | 1.45e-42 | 1.365 |
| chr9:136153875 | rs651007 | - | C>T | 2934 | 20160 | 184.3 | 5.621e-42 | 1.362 |
| chr9:136142203 | rs514659 | ABO | A>C | 4205 | 30562 | 181.2 | 2.666e-41 | 1.321 |
| chr9:136154168 | rs579459 | - | T>C | 2929 | 20168 | 180.9 | 3.086e-41 | 1.358 |
| chr9:136139265 | rs657152 | ABO | C>A | 4580 | 33773 | 174.7 | 6.902e-40 | 1.306 |
| chr9:136132908 | rs8176719 | ABO | T>TC | 4559 | 33545 | 174.5 | 7.776e-40 | 1.306 |
| chr9:136142355 | rs643434 | ABO | G>A | 4599 | 33935 | 173.2 | 1.477e-39 | 1.304 |
| chr4:155525276 | rs2066865 | - | G>A | 3320 | 24027 | 135.2 | 3.003e-31 | 1.289 |
| chr4:155542248 | rs7681423 | - | C>T | 3291 | 23886 | 130.6 | 3.075e-30 | 1.285 |
| chr1:169519049 | rs6025 | F5 | C>T | 455 | 2270 | 124.3 | 7.398e-29 | 1.778 |
| chr4:155507590 | rs6050 | FGA | T>C | 3441 | 25199 | 123.5 | 1.071e-28 | 1.272 |
| chr4:155514879 | rs13109457 | - | G>A | 3432 | 25288 | 116.4 | 3.963e-27 | 1.263 |
| chr4:187207381 | rs2289252 | F11 | C>T | 5065 | 39290 | 104.0 | 2.002e-24 | 1.225 |
| chr9:136237672 | rs56343119 | SURF4 | C>A | 1944 | 13499 | 103.4 | 2.718e-24 | 1.309 |
| chr4:187188094 | rs4253399 | F11 | T>G | 4830 | 37446 | 97.08 | 6.646e-23 | 1.218 |
| chr9:136149399 | rs507666 | ABO | G>A | 2599 | 16990 | 205.7 | 1.205e-46 | 1.409 |
| chr9:136143442 | rs612169 | ABO | A>G | 4177 | 29608 | 197.5 | 7.453e-45 | 1.339 |
| chr9:136137065 | rs687621 | ABO | A>G | 4168 | 29556 | 196.9 | 9.857e-45 | 1.34 |
| chr9:136149229 | rs505922 | ABO | T>C | 4159 | 29453 | 196.6 | 1.145e-44 | 1.339 |
| chr9:136142203 | rs514659 | ABO | A>C | 4026 | 28541 | 187.1 | 1.385e-42 | 1.334 |
| chr9:136155000 | rs635634 | - | C>T | 2547 | 16870 | 186.0 | 2.399e-42 | 1.389 |
| chr9:136154867 | rs495828 | - | G>T | 2866 | 19281 | 185.0 | 3.895e-42 | 1.369 |
| chr9:136153875 | rs651007 | - | C>T | 2861 | 19293 | 182.1 | 1.703e-41 | 1.366 |
| chr9:136139265 | rs657152 | ABO | C>A | 4384 | 31565 | 179.7 | 5.584e-41 | 1.318 |
| chr9:136142355 | rs643434 | ABO | G>A | 4401 | 31692 | 179.0 | 8.043e-41 | 1.317 |
| chr9:136154168 | rs579459 | - | T>C | 2857 | 19309 | 178.8 | 8.754e-41 | 1.362 |
| chr9:136132908 | rs8176719 | ABO | T>TC | 4383 | 31590 | 174.5 | 7.748e-40 | 1.313 |
| chr4:155525276 | rs2066865 | - | G>A | 3177 | 22486 | 135.7 | 2.361e-31 | 1.297 |
| chr4:155542248 | rs7681423 | - | C>T | 3166 | 22444 | 133.6 | 6.591e-31 | 1.295 |
| chr4:155507590 | rs6050 | FGA | T>C | 3288 | 23516 | 126.4 | 2.49e-29 | 1.282 |
| chr4:155514879 | rs13109457 | - | G>A | 3307 | 23811 | 119.8 | 7.058e-28 | 1.273 |
| chr1:169519049 | rs6025 | F5 | C>T | 447 | 2206 | 119.2 | 9.597e-28 | 1.768 |
| chr4:187207381 | rs2289252 | F11 | C>T | 4941 | 37649 | 103.3 | 2.928e-24 | 1.229 |
| chr9:136237672 | rs56343119 | SURF4 | C>A | 1894 | 12967 | 98.12 | 3.945e-23 | 1.306 |
| chr4:187188094 | rs4253399 | F11 | T>G | 4732 | 36136 | 93.01 | 5.212e-22 | 1.217 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: I269 | Pulmonary embolism without mention of acute cor pulmonale | 20/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: C260 | Intestinal tract, part unspecified | 0/20 |
| ICD-10: I279 | Pulmonary heart disease, unspecified | 0/20 |
| ICD-10: K561 | Intussusception | 0/20 |