Statistics
| Case | Control |
|---|---|
| 270 | 459924 |
Phenotype Definition
Lack of recognizable penile structures. [HPO:probinson, PMID:23650202]
Phenotype Comment
Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr10:103714781 | rs17114278 | ARMH3 | G>A | 23 | 13703 | 29.87 | 4.618e-08 | 3.027 |
| chr1:56963214 | rs79066668 | AC119674.2 | G>A | 45 | 36772 | 28.78 | 8.096e-08 | 2.253 |
| chr3:30515102 | rs76707566 | - | C>A | 28 | 18694 | 28.75 | 8.242e-08 | 2.714 |
| chr2:241570284 | rs142918765 | GPR35 | C>T | 20 | 11640 | 27.0 | 2.036e-07 | 3.079 |
| chr25:2349742 | rs183751119 | - | A>G | 42 | 35046 | 25.1 | 5.444e-07 | 2.191 |
| chr10:125775439 | rs116777343 | CHST15 | G>A | 31 | 23201 | 24.4 | 7.828e-07 | 2.422 |
| chr2:197247589 | rs115934508 | HECW2 | G>A | 23 | 15135 | 24.18 | 8.769e-07 | 2.732 |
| chr18:24254727 | rs35878325 | - | G>A | 21 | 13288 | 24.07 | 9.297e-07 | 2.841 |
| chr1:7934382 | rs72633042 | - | G>A | 17 | 9885 | 23.05 | 1.575e-06 | 3.076 |
| chr5:154065895 | rs4958761 | - | A>G | 205 | 270573 | 22.81 | 1.786e-06 | 1.517 |
| chr6:50697482 | rs114537312 | TFAP2D | A>G | 22 | 14892 | 22.41 | 2.202e-06 | 2.695 |
| chr3:30353373 | rs74546160 | - | T>C | 25 | 17780 | 22.37 | 2.246e-06 | 2.546 |
| chr20:23778131 | rs117878507 | - | C>T | 17 | 10152 | 22.13 | 2.549e-06 | 3.014 |
| chr2:29818790 | rs78806356 | ALK | G>A | 30 | 23194 | 21.7 | 3.187e-06 | 2.338 |
| chr3:112485895 | rs116310782 | - | C>A | 23 | 16093 | 21.58 | 3.399e-06 | 2.595 |
| chr15:80566573 | rs2866597 | - | G>A | 258 | 358492 | 21.56 | 3.424e-06 | 1.481 |
| chr1:230764747 | rs12125031 | - | C>T | 27 | 20420 | 20.66 | 5.482e-06 | 2.386 |
| chr8:106749918 | rs11777373 | ZFPM2 | A>G | 57 | 55688 | 20.63 | 5.579e-06 | 1.87 |
| chr4:74118189 | rs72663025 | ANKRD17 | G>C | 36 | 30415 | 20.58 | 5.724e-06 | 2.146 |
| chr8:134335022 | rs79397028 | - | G>A | 20 | 13301 | 20.52 | 5.915e-06 | 2.695 |
| chr10:103714781 | rs17114278 | ARMH3 | G>A | 23 | 13389 | 29.48 | 5.661e-08 | 3.009 |
| chr3:30515102 | rs76707566 | - | C>A | 27 | 18396 | 24.74 | 6.567e-07 | 2.578 |
| chr1:56963214 | rs79066668 | AC119674.2 | G>A | 43 | 36043 | 23.55 | 1.217e-06 | 2.125 |
| chr1:7934382 | rs72633042 | - | G>A | 17 | 9743 | 22.36 | 2.264e-06 | 3.03 |
| chr4:1512109 | rs35556654 | - | T>G | 23 | 15352 | 22.12 | 2.558e-06 | 2.625 |
| chr5:154065895 | rs4958761 | - | A>G | 200 | 256591 | 22.04 | 2.666e-06 | 1.515 |
| chr6:50697482 | rs114537312 | TFAP2D | A>G | 22 | 14639 | 21.94 | 2.811e-06 | 2.671 |
| chr4:189609753 | rs56216104 | - | C>A | 19 | 11668 | 21.87 | 2.924e-06 | 2.843 |
| chr2:241570284 | rs142918765 | GPR35 | C>T | 18 | 10771 | 21.62 | 3.319e-06 | 2.901 |
| chr20:23778131 | rs117878507 | - | C>T | 17 | 9996 | 21.52 | 3.509e-06 | 2.973 |
| chr6:91210665 | rs16883029 | - | G>T | 25 | 17490 | 21.5 | 3.532e-06 | 2.504 |
| chr10:125775439 | rs116777343 | CHST15 | G>A | 30 | 22761 | 21.15 | 4.255e-06 | 2.315 |
| chr25:2349742 | rs183751119 | - | A>G | 40 | 33890 | 20.98 | 4.633e-06 | 2.088 |
| chr3:112485895 | rs116310782 | - | C>A | 23 | 15860 | 20.85 | 4.971e-06 | 2.558 |
| chr2:29818790 | rs78806356 | ALK | G>A | 30 | 22911 | 20.74 | 5.249e-06 | 2.298 |
| chr18:24254727 | rs35878325 | - | G>A | 20 | 12895 | 20.63 | 5.585e-06 | 2.703 |
| chr10:6999765 | rs10905075 | - | T>G | 270 | 372246 | 20.32 | 6.568e-06 | 1.472 |
| chr1:246565320 | rs6704000 | SMYD3 | G>A | 30 | 23106 | 20.31 | 6.581e-06 | 2.279 |
| chr4:74118189 | rs72663025 | ANKRD17 | G>C | 36 | 29710 | 20.22 | 6.907e-06 | 2.134 |
| chr8:106749918 | rs11777373 | ZFPM2 | A>G | 57 | 54528 | 20.07 | 7.47e-06 | 1.856 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr10:103714781 | rs17114278 | ARMH3 | G>A | 23 | 473 | 30.27 | 3.751e-08 | 3.121 |
| chr12:67087342 | rs11837712 | GRIP1 | G>C | 10 | 137 | 25.82 | 3.742e-07 | 4.605 |
| chr3:30515102 | rs76707566 | - | C>A | 27 | 653 | 25.51 | 4.394e-07 | 2.659 |
| chr8:2700152 | rs17756629 | - | T>C | 19 | 407 | 23.0 | 1.622e-06 | 2.977 |
| chr10:125775439 | rs116777343 | CHST15 | G>A | 30 | 795 | 22.97 | 1.645e-06 | 2.429 |
| chr1:56963214 | rs79066668 | AC119674.2 | G>A | 43 | 1326 | 22.5 | 2.105e-06 | 2.114 |
| chr1:170394196 | rs73035182 | - | G>A | 14 | 261 | 21.96 | 2.781e-06 | 3.402 |
| chr5:154065895 | rs4958761 | - | A>G | 200 | 9382 | 21.82 | 2.988e-06 | 1.518 |
| chr16:65411775 | rs117164974 | - | A>G | 20 | 453 | 21.51 | 3.513e-06 | 2.81 |
| chr6:91210665 | rs16883029 | - | G>T | 25 | 633 | 21.27 | 3.981e-06 | 2.532 |
| chr25:2349742 | rs183751119 | - | A>G | 40 | 1224 | 21.14 | 4.278e-06 | 2.116 |
| chr1:7934382 | rs72633042 | - | G>A | 17 | 359 | 21.12 | 4.311e-06 | 3.011 |
| chr13:55159898 | rs80030908 | - | G>A | 22 | 528 | 21.04 | 4.486e-06 | 2.663 |
| chr6:50697482 | rs114537312 | TFAP2D | A>G | 22 | 541 | 20.95 | 4.722e-06 | 2.661 |
| chr3:134956085 | rs6782633 | EPHB1 | G>A | 35 | 1031 | 20.55 | 5.798e-06 | 2.193 |
| chr2:241570284 | rs142918765 | GPR35 | C>T | 18 | 399 | 20.25 | 6.799e-06 | 2.868 |
| chr4:1512109 | rs35556654 | - | T>G | 23 | 575 | 20.18 | 7.052e-06 | 2.563 |
| chr3:112485895 | rs116310782 | - | C>A | 23 | 582 | 19.98 | 7.815e-06 | 2.551 |
| chr18:24254727 | rs35878325 | - | G>A | 20 | 470 | 19.98 | 7.841e-06 | 2.712 |
| chr8:142974018 | rs116927692 | - | T>C | 27 | 728 | 19.94 | 7.975e-06 | 2.387 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N321 | Vesicointestinal fistula | 7/20 |
| ID | Name | Top Correlation |
|---|