Statistics
| Female Case | Female Control | % Female |
|---|---|---|
| 7342 | 242515 | 42% |
| Male Case | Male Control | % Male |
|---|---|---|
| 10028 | 200309 | 58% |
Phenotype Definition
An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr12:16131292 | rs78670848 | DERA | C>T | 2323 | 69651 | 25.46 | 4.506e-07 | 1.122 |
| chr3:28056877 | rs7642264 | - | A>C | 5721 | 179353 | 24.37 | 7.94e-07 | 1.087 |
| chr9:74251989 | rs4744637 | - | C>T | 4689 | 146020 | 23.02 | 1.606e-06 | 1.089 |
| chr14:65430098 | rs74056628 | CHURC1-FNTB | A>G | 389 | 10106 | 22.38 | 2.243e-06 | 1.28 |
| chr18:37744705 | rs111344953 | - | G>A | 2281 | 68683 | 22.33 | 2.301e-06 | 1.115 |
| chr4:148503864 | rs6839187 | - | C>T | 792 | 22207 | 21.8 | 3.029e-06 | 1.189 |
| chr11:33906826 | rs3781578 | - | G>A | 3866 | 120048 | 21.73 | 3.139e-06 | 1.094 |
| chr4:149128595 | rs7670121 | NR3C2 | A>G | 3489 | 123599 | 21.62 | 3.32e-06 | 0.9133 |
| chr14:65377610 | rs10136659 | - | G>A | 332 | 8503 | 21.47 | 3.595e-06 | 1.299 |
| chr4:27186464 | rs10030950 | - | T>C | 5562 | 193461 | 21.38 | 3.775e-06 | 0.9245 |
| chr15:58678797 | rs12908733 | - | T>C | 525 | 14244 | 21.16 | 4.234e-06 | 1.231 |
| chr9:44234927 | rs55755621 | - | G>A | 1084 | 41052 | 21.11 | 4.339e-06 | 0.8637 |
| chr1:208036829 | rs1891422 | - | A>G | 1358 | 39817 | 20.75 | 5.241e-06 | 1.141 |
| chr2:183177121 | rs71427838 | PDE1A | C>T | 370 | 9646 | 20.73 | 5.286e-06 | 1.276 |
| chr4:103224594 | rs116595123 | SLC39A8 | T>C | 319 | 13542 | 20.08 | 7.414e-06 | 0.7743 |
| chr9:14622952 | rs7874535 | ZDHHC21 | A>G | 4341 | 152153 | 19.94 | 8.01e-06 | 0.9222 |
| chr11:27062046 | rs77925271 | - | T>C | 644 | 17862 | 19.87 | 8.301e-06 | 1.2 |
| chr4:166191143 | rs4691179 | KLHL2 | C>T | 1564 | 46384 | 19.5 | 1.005e-05 | 1.127 |
| chr2:62489753 | rs10191618 | - | C>G | 1259 | 36838 | 19.39 | 1.064e-05 | 1.141 |
| chr4:148513881 | rs76676992 | - | T>C | 331 | 8585 | 19.28 | 1.128e-05 | 1.281 |
| chr12:16131292 | rs78670848 | DERA | C>T | 2253 | 67575 | 24.05 | 9.405e-07 | 1.121 |
| chr4:27186464 | rs10030950 | - | T>C | 5055 | 176379 | 22.58 | 2.014e-06 | 0.9196 |
| chr9:14622952 | rs7874535 | ZDHHC21 | A>G | 4167 | 146468 | 22.07 | 2.627e-06 | 0.9164 |
| chr11:33906826 | rs3781578 | - | G>A | 3644 | 112862 | 21.38 | 3.776e-06 | 1.096 |
| chr3:28056877 | rs7642264 | - | A>C | 5463 | 171742 | 20.03 | 7.609e-06 | 1.081 |
| chr2:183177121 | rs71427838 | PDE1A | C>T | 356 | 9266 | 20.01 | 7.722e-06 | 1.276 |
| chr1:208036829 | rs1891422 | - | A>G | 1271 | 37141 | 19.96 | 7.893e-06 | 1.143 |
| chr15:58678797 | rs12908733 | - | T>C | 461 | 12420 | 19.63 | 9.411e-06 | 1.238 |
| chr9:44234927 | rs55755621 | - | G>A | 1000 | 37830 | 19.55 | 9.808e-06 | 0.8636 |
| chr9:119577200 | rs7034913 | ASTN2 | C>A | 3152 | 96994 | 19.54 | 9.833e-06 | 1.094 |
| chr4:149128595 | rs7670121 | NR3C2 | A>G | 3292 | 116280 | 19.48 | 1.018e-05 | 0.9152 |
| chr10:15093266 | rs12242130 | OLAH | G>A | 951 | 27295 | 19.23 | 1.159e-05 | 1.161 |
| chr4:103224594 | rs116595123 | SLC39A8 | T>C | 313 | 13224 | 19.17 | 1.197e-05 | 0.7769 |
| chr11:27062046 | rs77925271 | - | T>C | 635 | 17634 | 19.07 | 1.262e-05 | 1.197 |
| chr4:148503864 | rs6839187 | - | C>T | 739 | 20805 | 19.03 | 1.287e-05 | 1.182 |
| chr4:148513881 | rs76676992 | - | T>C | 327 | 8477 | 18.94 | 1.35e-05 | 1.281 |
| chr9:74251989 | rs4744637 | - | C>T | 4362 | 136153 | 18.77 | 1.478e-05 | 1.083 |
| chr14:73391593 | rs7142086 | - | C>T | 1041 | 30169 | 18.71 | 1.523e-05 | 1.152 |
| chr16:3993318 | rs34735233 | - | GT>G | 867 | 24768 | 18.48 | 1.721e-05 | 1.165 |
| chr18:37744705 | rs111344953 | - | G>A | 2215 | 67141 | 18.31 | 1.881e-05 | 1.105 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:1315660 | rs4975616 | - | A>G | 8538 | 178804 | 32.11 | 1.454e-08 | 0.9221 |
| chr5:1322087 | rs401681 | CLPTM1L | C>T | 8880 | 185201 | 28.75 | 8.226e-08 | 0.9265 |
| chr5:1342714 | rs31489 | CLPTM1L | C>A | 8214 | 171662 | 27.64 | 1.465e-07 | 0.927 |
| chr1:1425700 | rs819980 | ATAD3B | T>C | 1832 | 41154 | 26.13 | 3.189e-07 | 0.8801 |
| chr4:55797070 | rs56295948 | - | G>T | 535 | 8655 | 22.77 | 1.827e-06 | 1.24 |
| chr16:81909113 | rs9939843 | PLCG2 | G>C | 5840 | 110430 | 22.28 | 2.362e-06 | 1.077 |
| chr3:1187200 | rs77424925 | CNTN6 | G>A | 412 | 6491 | 22.18 | 2.488e-06 | 1.273 |
| chr17:7847955 | rs11650083 | CNTROB | C>A | 10288 | 198260 | 22.15 | 2.526e-06 | 1.068 |
| chr17:7893174 | rs8073033 | - | T>C | 10302 | 198603 | 21.78 | 3.065e-06 | 1.068 |
| chr5:1356684 | rs37004 | - | C>T | 4567 | 96912 | 21.34 | 3.838e-06 | 0.9241 |
| chr6:93570222 | rs1515782 | - | A>G | 5206 | 98114 | 21.34 | 3.843e-06 | 1.078 |
| chr5:156727692 | rs3815829 | CYFIP2 | T>C | 2435 | 44455 | 21.33 | 3.863e-06 | 1.108 |
| chr1:152256434 | rs115113700 | - | C>G | 424 | 6745 | 20.9 | 4.842e-06 | 1.259 |
| chr7:33798880 | rs4723328 | BBS9 | C>T | 9893 | 204400 | 20.84 | 4.983e-06 | 0.9377 |
| chr5:156769649 | rs10037386 | CYFIP2 | C>T | 2483 | 45365 | 20.57 | 5.742e-06 | 1.104 |
| chr16:22820500 | rs150342 | - | G>A | 10298 | 198751 | 20.49 | 6.002e-06 | 1.066 |
| chr10:22403894 | rs118081660 | - | G>C | 758 | 12803 | 20.46 | 6.105e-06 | 1.188 |
| chr12:115121189 | rs2242442 | TBX3 | G>A | 4621 | 86606 | 20.39 | 6.31e-06 | 1.081 |
| chr5:156753257 | Affx-25934220 | CYFIP2 | C>T | 2452 | 44818 | 20.25 | 6.804e-06 | 1.104 |
| chr10:22581581 | rs116940348 | - | G>A | 738 | 12479 | 20.01 | 7.689e-06 | 1.188 |
| chr5:1315660 | rs4975616 | - | A>G | 8060 | 168720 | 28.84 | 7.876e-08 | 0.9238 |
| chr5:1342714 | rs31489 | CLPTM1L | C>A | 7824 | 163530 | 25.83 | 3.727e-07 | 0.9274 |
| chr4:55797070 | rs56295948 | - | G>T | 529 | 8459 | 25.25 | 5.028e-07 | 1.256 |
| chr5:1322087 | rs401681 | CLPTM1L | C>T | 8433 | 175659 | 25.07 | 5.517e-07 | 0.9292 |
| chr5:1356684 | rs37004 | - | C>T | 4429 | 94344 | 23.07 | 1.563e-06 | 0.9197 |
| chr16:22820500 | rs150342 | - | G>A | 9580 | 184364 | 22.84 | 1.762e-06 | 1.072 |
| chr23:20990609 | rs5990984 | - | G>A | 1133 | 19762 | 21.86 | 2.927e-06 | 1.164 |
| chr17:7847955 | rs11650083 | CNTROB | C>A | 9536 | 183719 | 21.68 | 3.227e-06 | 1.07 |
| chr4:5006936 | rs10029031 | - | A>G | 320 | 8272 | 21.15 | 4.248e-06 | 0.7684 |
| chr12:7046077 | rs11547602 | ATN1 | G>A | 574 | 13879 | 20.82 | 5.058e-06 | 0.8213 |
| chr5:156769649 | rs10037386 | CYFIP2 | C>T | 2352 | 42908 | 20.48 | 6.037e-06 | 1.107 |
| chr19:54469068 | rs10420331 | CACNG8 | G>A | 8198 | 170254 | 20.37 | 6.374e-06 | 0.9357 |
| chr5:156710745 | rs6890694 | CYFIP2 | G>A | 3465 | 64428 | 20.14 | 7.194e-06 | 1.09 |
| chr5:156705880 | rs10463005 | CYFIP2 | T>G | 3516 | 65443 | 20.06 | 7.489e-06 | 1.089 |
| chr16:81909113 | rs9939843 | PLCG2 | G>C | 5444 | 103129 | 19.75 | 8.81e-06 | 1.075 |
| chr17:7893174 | rs8073033 | - | T>C | 9615 | 185556 | 19.73 | 8.925e-06 | 1.066 |
| chr5:156770209 | rs10214194 | CYFIP2 | G>A | 3457 | 64361 | 19.68 | 9.158e-06 | 1.089 |
| chr3:1187200 | rs77424925 | CNTN6 | G>A | 392 | 6235 | 19.56 | 9.731e-06 | 1.261 |
| chr12:115121189 | rs2242442 | TBX3 | G>A | 4377 | 82060 | 19.53 | 9.914e-06 | 1.081 |
| chr4:32252484 | rs74508559 | - | C>T | 785 | 18331 | 19.38 | 1.069e-05 | 0.8491 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N320 | Bladder-neck obstruction | 1/20 |