Statistics
| Case | Control |
|---|---|
| 199 | 459995 |
Phenotype Definition
Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr23:96376463 | rs144583159 | DIAPH2 | T>G | 23 | 20422 | 34.7 | 3.843e-09 | 3.354 |
| chr4:74118189 | rs72663025 | ANKRD17 | G>C | 33 | 30418 | 32.89 | 9.748e-09 | 2.718 |
| chr1:230764747 | rs12125031 | - | C>T | 24 | 20423 | 28.23 | 1.076e-07 | 2.907 |
| chr3:30515102 | rs76707566 | - | C>A | 22 | 18700 | 25.92 | 3.561e-07 | 2.902 |
| chr18:11208278 | rs62083788 | - | G>A | 36 | 38563 | 25.4 | 4.664e-07 | 2.349 |
| chr4:74447930 | rs72649118 | RASSF6 | T>C | 25 | 22814 | 25.28 | 4.952e-07 | 2.709 |
| chr18:11220457 | rs62083799 | - | G>T | 36 | 38517 | 25.12 | 5.398e-07 | 2.338 |
| chr5:132590360 | rs17166463 | FSTL4 | G>A | 23 | 20305 | 24.93 | 5.951e-07 | 2.791 |
| chr3:39225585 | rs146284335 | XIRP1 | C>T | 15 | 10936 | 24.02 | 9.534e-07 | 3.368 |
| chr4:84405745 | rs6844460 | ABRAXAS1 | T>C | 155 | 484282 | 23.74 | 1.105e-06 | 0.6118 |
| chr4:84423655 | rs7694435 | ABRAXAS1 | C>A | 253 | 483665 | 23.32 | 1.374e-06 | 1.626 |
| chr3:133644919 | rs73217276 | - | C>G | 38 | 42713 | 23.23 | 1.436e-06 | 2.225 |
| chr1:56963214 | rs79066668 | AC119674.2 | G>A | 34 | 36783 | 23.0 | 1.623e-06 | 2.304 |
| chr6:50697482 | rs114537312 | TFAP2D | A>G | 18 | 14896 | 22.97 | 1.644e-06 | 3.01 |
| chr23:107209932 | rs139263000 | - | A>G | 19 | 18940 | 22.67 | 1.919e-06 | 2.946 |
| chr4:84373622 | rs4693089 | HELQ | G>A | 248 | 479639 | 22.57 | 2.027e-06 | 1.618 |
| chr19:50758612 | rs117835612 | MYH14 | G>A | 20 | 17382 | 22.4 | 2.219e-06 | 2.824 |
| chr6:1197657 | rs6912227 | - | G>A | 18 | 14942 | 22.38 | 2.238e-06 | 2.965 |
| chr4:11620826 | rs16884739 | - | A>G | 87 | 129614 | 22.08 | 2.609e-06 | 1.751 |
| chr3:19939758 | rs116660070 | EFHB | T>C | 14 | 10399 | 21.55 | 3.446e-06 | 3.292 |
| chr4:74118189 | rs72663025 | ANKRD17 | G>C | 33 | 29713 | 32.48 | 1.201e-08 | 2.705 |
| chr23:96376463 | rs144583159 | DIAPH2 | T>G | 22 | 20010 | 29.73 | 4.954e-08 | 3.161 |
| chr5:132590360 | rs17166463 | FSTL4 | G>A | 22 | 17683 | 27.29 | 1.753e-07 | 2.979 |
| chr1:230764747 | rs12125031 | - | C>T | 24 | 20185 | 27.21 | 1.825e-07 | 2.858 |
| chr1:246565320 | rs6704000 | SMYD3 | G>A | 26 | 23110 | 26.15 | 3.165e-07 | 2.708 |
| chr6:91210665 | rs16883029 | - | G>T | 21 | 17494 | 24.26 | 8.429e-07 | 2.873 |
| chr4:74447930 | rs72649118 | RASSF6 | T>C | 25 | 22578 | 24.24 | 8.518e-07 | 2.66 |
| chr4:189609753 | rs56216104 | - | C>A | 16 | 11671 | 24.16 | 8.879e-07 | 3.27 |
| chr23:121380922 | rs142148945 | - | A>G | 16 | 13964 | 23.21 | 1.454e-06 | 3.238 |
| chr1:212638725 | rs902437 | - | A>G | 124 | 196541 | 23.05 | 1.576e-06 | 1.673 |
| chr23:107209932 | rs139263000 | - | A>G | 19 | 18398 | 22.54 | 2.062e-06 | 2.94 |
| chr3:133644919 | rs73217276 | - | C>G | 38 | 42057 | 22.37 | 2.244e-06 | 2.196 |
| chr6:50697482 | rs114537312 | TFAP2D | A>G | 18 | 14643 | 22.31 | 2.324e-06 | 2.968 |
| chr6:1197657 | rs6912227 | - | G>A | 18 | 14613 | 22.06 | 2.638e-06 | 2.946 |
| chr9:27716676 | rs117123569 | - | G>A | 21 | 18290 | 21.98 | 2.759e-06 | 2.741 |
| chr3:30515102 | rs76707566 | - | C>A | 21 | 18402 | 21.75 | 3.111e-06 | 2.728 |
| chr4:11620826 | rs16884739 | - | A>G | 86 | 124610 | 21.74 | 3.127e-06 | 1.752 |
| chr19:50758612 | rs117835612 | MYH14 | G>A | 20 | 17145 | 21.66 | 3.254e-06 | 2.782 |
| chr10:14427729 | rs667925 | FRMD4A | C>A | 160 | 271462 | 21.39 | 3.742e-06 | 1.598 |
| chr3:19939758 | rs116660070 | EFHB | T>C | 14 | 10248 | 20.98 | 4.645e-06 | 3.248 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr4:74118189 | rs72663025 | ANKRD17 | G>C | 33 | 175 | 40.82 | 1.669e-10 | 3.295 |
| chr5:132590360 | rs17166463 | FSTL4 | G>A | 22 | 103 | 33.15 | 8.535e-09 | 3.658 |
| chr23:96376463 | rs144583159 | DIAPH2 | T>G | 22 | 112 | 28.07 | 1.171e-07 | 3.364 |
| chr1:246565320 | rs6704000 | SMYD3 | G>A | 26 | 150 | 27.3 | 1.74e-07 | 2.979 |
| chr13:55159898 | rs80030908 | - | G>A | 18 | 87 | 25.75 | 3.884e-07 | 3.521 |
| chr4:74447930 | rs72649118 | RASSF6 | T>C | 25 | 146 | 25.6 | 4.196e-07 | 2.936 |
| chr23:121380922 | rs142148945 | - | A>G | 16 | 71 | 25.43 | 4.581e-07 | 3.806 |
| chr2:54319673 | rs72800733 | ACYP2 | C>A | 17 | 81 | 24.79 | 6.38e-07 | 3.559 |
| chr12:76828741 | rs74826035 | OSBPL8 | T>C | 20 | 107 | 23.91 | 1.011e-06 | 3.176 |
| chr3:19939758 | rs116660070 | EFHB | T>C | 14 | 62 | 23.1 | 1.537e-06 | 3.833 |
| chr1:212638725 | rs902437 | - | A>G | 124 | 1382 | 22.91 | 1.7e-06 | 1.704 |
| chr6:1197657 | rs6912227 | - | G>A | 18 | 94 | 22.69 | 1.902e-06 | 3.264 |
| chr5:132612133 | rs79440349 | FSTL4 | C>T | 18 | 95 | 22.1 | 2.594e-06 | 3.216 |
| chr1:230764747 | rs12125031 | - | C>T | 24 | 148 | 22.07 | 2.634e-06 | 2.774 |
| chr4:84405745 | rs6844460 | ABRAXAS1 | T>C | 149 | 3233 | 21.83 | 2.981e-06 | 0.6106 |
| chr9:13648529 | rs16930626 | - | T>C | 13 | 58 | 21.77 | 3.072e-06 | 3.862 |
| chr9:27716676 | rs117123569 | - | G>A | 21 | 124 | 20.95 | 4.713e-06 | 2.882 |
| chr19:50758612 | rs117835612 | MYH14 | G>A | 20 | 116 | 20.68 | 5.436e-06 | 2.933 |
| chr4:84423655 | rs7694435 | ABRAXAS1 | C>A | 247 | 3287 | 20.58 | 5.727e-06 | 1.613 |
| chr2:25383068 | rs28932474 | - | G>C | 34 | 254 | 20.46 | 6.093e-06 | 2.313 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N321 | Vesicointestinal fistula | 12/20 |
| ID | Name | Top Correlation |
|---|