Statistics
| Case | Control |
|---|---|
| 286 | 459908 |
Phenotype Definition
A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr16:47636656 | rs12325573 | PHKB | G>C | 306 | 404326 | 26.98 | 2.056e-07 | 1.531 |
| chr16:47787411 | rs12920986 | - | G>A | 310 | 413500 | 25.86 | 3.674e-07 | 1.519 |
| chr7:152957313 | rs76363184 | - | G>A | 37 | 27658 | 25.39 | 4.689e-07 | 2.298 |
| chr18:11208278 | rs62083788 | - | G>A | 46 | 38553 | 23.34 | 1.357e-06 | 2.068 |
| chr18:11220457 | rs62083799 | - | G>T | 46 | 38507 | 23.15 | 1.502e-06 | 2.061 |
| chr8:106749918 | rs11777373 | ZFPM2 | A>G | 61 | 55684 | 22.94 | 1.67e-06 | 1.893 |
| chr13:43889800 | rs117357821 | ENOX1 | A>G | 51 | 44012 | 22.42 | 2.194e-06 | 1.976 |
| chr10:6813426 | rs75292198 | - | C>T | 100 | 106434 | 22.3 | 2.336e-06 | 1.67 |
| chr3:133644919 | rs73217276 | - | C>G | 49 | 42702 | 21.77 | 3.071e-06 | 1.98 |
| chr4:84423655 | rs7694435 | ABRAXAS1 | C>A | 348 | 483570 | 21.61 | 3.335e-06 | 1.475 |
| chr3:30226351 | rs76213114 | - | T>C | 26 | 18043 | 21.55 | 3.447e-06 | 2.462 |
| chr6:123142390 | rs72968570 | - | G>T | 37 | 29352 | 21.48 | 3.568e-06 | 2.157 |
| chr19:46625002 | rs77783195 | IGFL3 | G>A | 51 | 45420 | 21.48 | 3.567e-06 | 1.949 |
| chr4:84405745 | rs6844460 | ABRAXAS1 | T>C | 237 | 484200 | 21.36 | 3.809e-06 | 0.6796 |
| chr2:85471960 | rs72840007 | TCF7L1 | A>C | 72 | 70979 | 21.32 | 3.882e-06 | 1.774 |
| chr2:57572742 | rs77623244 | - | A>C | 28 | 20560 | 20.76 | 5.218e-06 | 2.358 |
| chr19:6685723 | rs11569538 | C3 | C>G | 76 | 76617 | 20.64 | 5.546e-06 | 1.736 |
| chr18:11186753 | rs16975872 | - | C>G | 41 | 34476 | 20.52 | 5.915e-06 | 2.051 |
| chr2:179358524 | rs78166316 | PLEKHA3 | A>G | 21 | 13536 | 20.51 | 5.928e-06 | 2.635 |
| chr1:230764747 | rs12125031 | - | C>T | 28 | 20419 | 20.38 | 6.333e-06 | 2.338 |
| chr7:152957313 | rs76363184 | - | G>A | 37 | 26804 | 25.38 | 4.696e-07 | 2.3 |
| chr16:47636656 | rs12325573 | PHKB | G>C | 295 | 382741 | 23.09 | 1.548e-06 | 1.491 |
| chr19:6685723 | rs11569538 | C3 | C>G | 75 | 71518 | 22.49 | 2.112e-06 | 1.785 |
| chr8:106749918 | rs11777373 | ZFPM2 | A>G | 61 | 54524 | 22.2 | 2.457e-06 | 1.875 |
| chr16:47787411 | rs12920986 | - | G>A | 299 | 391941 | 21.9 | 2.872e-06 | 1.477 |
| chr14:34386335 | rs1769593 | - | A>G | 33 | 24366 | 21.74 | 3.128e-06 | 2.257 |
| chr23:142717383 | rs73577386 | SLITRK4 | A>G | 4 | 916 | 21.24 | 4.045e-06 | 7.248 |
| chr19:46625002 | rs77783195 | IGFL3 | G>A | 51 | 44326 | 21.04 | 4.503e-06 | 1.938 |
| chr23:26098307 | rs12687007 | - | C>T | 32 | 24107 | 20.85 | 4.974e-06 | 2.262 |
| chr2:57572742 | rs77623244 | - | A>C | 28 | 19960 | 20.79 | 5.115e-06 | 2.362 |
| chr6:123142390 | rs72968570 | - | G>T | 37 | 28826 | 20.71 | 5.35e-06 | 2.13 |
| chr3:133644919 | rs73217276 | - | C>G | 49 | 42046 | 20.69 | 5.388e-06 | 1.949 |
| chr3:30226351 | rs76213114 | - | T>C | 26 | 17808 | 20.62 | 5.614e-06 | 2.419 |
| chr1:205248437 | rs3738742 | TMCC2 | C>T | 59 | 53979 | 20.52 | 5.896e-06 | 1.847 |
| chr4:45970577 | rs75337241 | - | G>A | 37 | 29048 | 20.43 | 6.188e-06 | 2.119 |
| chr8:19495275 | rs2957616 | CSGALNACT1 | C>T | 203 | 249228 | 20.2 | 6.969e-06 | 1.478 |
| chr19:6686089 | rs11569536 | C3 | G>A | 71 | 68145 | 20.19 | 7.008e-06 | 1.756 |
| chr13:43889800 | rs117357821 | ENOX1 | A>G | 50 | 42986 | 20.11 | 7.322e-06 | 1.921 |
| chr2:85471960 | rs72840007 | TCF7L1 | A>C | 72 | 69848 | 20.1 | 7.353e-06 | 1.747 |
| chr14:88056857 | rs8003510 | - | C>T | 19 | 11473 | 19.97 | 7.861e-06 | 2.722 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr7:152957313 | rs76363184 | - | G>A | 37 | 12306 | 25.67 | 4.042e-07 | 2.311 |
| chr16:47636656 | rs12325573 | PHKB | G>C | 295 | 176618 | 23.05 | 1.581e-06 | 1.491 |
| chr14:34386335 | rs1769593 | - | A>G | 33 | 11067 | 22.62 | 1.971e-06 | 2.294 |
| chr8:106749918 | rs11777373 | ZFPM2 | A>G | 61 | 25040 | 22.57 | 2.031e-06 | 1.886 |
| chr19:6685723 | rs11569538 | C3 | C>G | 75 | 32983 | 22.51 | 2.095e-06 | 1.786 |
| chr16:47787411 | rs12920986 | - | G>A | 299 | 180786 | 21.99 | 2.743e-06 | 1.479 |
| chr23:142717383 | rs73577386 | SLITRK4 | A>G | 4 | 406 | 21.54 | 3.466e-06 | 7.354 |
| chr19:46625002 | rs77783195 | IGFL3 | G>A | 51 | 20528 | 20.77 | 5.192e-06 | 1.93 |
| chr3:30226351 | rs76213114 | - | T>C | 26 | 8207 | 20.65 | 5.528e-06 | 2.422 |
| chr6:123142390 | rs72968570 | - | G>T | 37 | 13315 | 20.64 | 5.539e-06 | 2.129 |
| chr2:57572742 | rs77623244 | - | A>C | 28 | 9275 | 20.42 | 6.204e-06 | 2.346 |
| chr1:205248437 | rs3738742 | TMCC2 | C>T | 59 | 24951 | 20.37 | 6.381e-06 | 1.844 |
| chr3:133644919 | rs73217276 | - | C>G | 49 | 19498 | 20.33 | 6.502e-06 | 1.939 |
| chr2:85471960 | rs72840007 | TCF7L1 | A>C | 72 | 32139 | 20.31 | 6.577e-06 | 1.753 |
| chr19:6686089 | rs11569536 | C3 | G>A | 71 | 31420 | 20.27 | 6.717e-06 | 1.759 |
| chr1:18391816 | rs75094105 | - | C>T | 23 | 6926 | 20.23 | 6.885e-06 | 2.523 |
| chr4:45970577 | rs75337241 | - | G>A | 37 | 13447 | 20.21 | 6.941e-06 | 2.112 |
| chr6:123124942 | rs62623431 | SMPDL3A | A>C | 27 | 8704 | 20.21 | 6.952e-06 | 2.365 |
| chr23:26098307 | rs12687007 | - | C>T | 32 | 10963 | 20.18 | 7.062e-06 | 2.235 |
| chr14:88056857 | rs8003510 | - | C>T | 19 | 5272 | 20.12 | 7.291e-06 | 2.733 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N321 | Vesicointestinal fistula | 3/20 |
| ID | Name | Top Correlation |
|---|