Statistics
| Case | Control |
|---|---|
| 4590 | 455604 |
Phenotype Definition
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). [HPO:sdoelken]
Phenotype Comment
Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect).
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr2:109825516 | rs12328666 | SH3RF3 | G>A | 3503 | 326558 | 26.22 | 3.042e-07 | 1.115 |
| chr10:93968910 | rs72807258 | CPEB3 | G>A | 1512 | 134158 | 25.57 | 4.266e-07 | 1.153 |
| chr8:122008610 | rs34372843 | - | A>G | 826 | 70094 | 23.48 | 1.259e-06 | 1.195 |
| chr25:2676915 | rs311115 | - | G>C | 625 | 75244 | 23.12 | 1.525e-06 | 0.8192 |
| chr7:16904437 | rs73082118 | AGR3 | T>C | 634 | 75969 | 22.9 | 1.71e-06 | 0.8211 |
| chr4:130319698 | rs114931155 | - | C>T | 241 | 17747 | 22.71 | 1.884e-06 | 1.366 |
| chr21:39223338 | rs6517436 | KCNJ6 | A>G | 4407 | 417507 | 21.68 | 3.229e-06 | 1.1 |
| chr18:58813712 | rs154932 | - | A>G | 2473 | 267942 | 21.5 | 3.542e-06 | 0.8971 |
| chr13:106339004 | rs9558602 | - | T>C | 2808 | 301127 | 20.68 | 5.421e-06 | 0.9027 |
| chr2:26965682 | rs75291407 | - | C>T | 409 | 32821 | 20.47 | 6.064e-06 | 1.258 |
| chr23:111508002 | rs73219779 | - | G>A | 1541 | 162004 | 20.47 | 6.065e-06 | 1.142 |
| chr6:129564944 | rs265387 | LAMA2 | A>G | 2198 | 238941 | 20.45 | 6.115e-06 | 0.8956 |
| chr5:35663578 | rs6863096 | SPEF2 | C>T | 4484 | 426494 | 20.01 | 7.69e-06 | 1.096 |
| chr5:67092594 | rs75579685 | - | T>C | 339 | 26635 | 19.99 | 7.779e-06 | 1.282 |
| chr18:40162858 | rs79196235 | - | A>G | 141 | 20419 | 19.98 | 7.828e-06 | 0.685 |
| chr13:106346549 | rs7983758 | - | C>T | 2777 | 297799 | 19.97 | 7.869e-06 | 0.904 |
| chr16:74264082 | rs115446865 | - | A>G | 201 | 14721 | 19.72 | 8.971e-06 | 1.373 |
| chr16:79877219 | rs34218786 | - | A>G | 456 | 37205 | 19.61 | 9.493e-06 | 1.238 |
| chr7:64088605 | rs78750842 | - | T>C | 600 | 50341 | 19.32 | 1.107e-05 | 1.205 |
| chr3:134109877 | rs11715463 | - | C>T | 1443 | 129649 | 19.24 | 1.152e-05 | 1.134 |
| chr8:122008610 | rs34372843 | - | A>G | 796 | 66463 | 25.58 | 4.252e-07 | 1.208 |
| chr8:122181861 | rs62528301 | - | C>A | 598 | 48917 | 23.55 | 1.216e-06 | 1.229 |
| chr21:39223338 | rs6517436 | KCNJ6 | A>G | 4240 | 397817 | 23.28 | 1.397e-06 | 1.107 |
| chr2:109825516 | rs12328666 | SH3RF3 | G>A | 3380 | 314232 | 22.78 | 1.821e-06 | 1.109 |
| chr4:130319698 | rs114931155 | - | C>T | 239 | 17512 | 22.27 | 2.37e-06 | 1.364 |
| chr5:105469160 | rs2043502 | - | G>A | 4053 | 380836 | 22.02 | 2.702e-06 | 1.104 |
| chr10:93968910 | rs72807258 | CPEB3 | G>A | 1474 | 131281 | 20.99 | 4.62e-06 | 1.14 |
| chr14:78002223 | rs28628767 | SPTLC2 | G>A | 1327 | 117226 | 20.41 | 6.263e-06 | 1.144 |
| chr3:134109877 | rs11715463 | - | C>T | 1421 | 126540 | 19.78 | 8.691e-06 | 1.138 |
| chr7:64088605 | rs78750842 | - | T>C | 596 | 49565 | 19.7 | 9.043e-06 | 1.208 |
| chr3:161499831 | rs2082980 | - | A>G | 615 | 72437 | 19.65 | 9.296e-06 | 0.8306 |
| chr1:168386785 | rs2300565 | - | T>C | 1948 | 176888 | 19.2 | 1.175e-05 | 1.119 |
| chr23:111508002 | rs73219779 | - | G>A | 1505 | 157910 | 18.92 | 1.362e-05 | 1.139 |
| chr2:26965682 | rs75291407 | - | C>T | 402 | 32251 | 18.88 | 1.393e-05 | 1.249 |
| chr5:105518291 | rs13162123 | - | A>G | 3381 | 315807 | 18.73 | 1.507e-05 | 1.099 |
| chr21:39190649 | rs2835986 | KCNJ6 | C>A | 4261 | 443312 | 18.51 | 1.691e-05 | 0.9134 |
| chr16:74264082 | rs115446865 | - | A>G | 193 | 14097 | 18.42 | 1.775e-05 | 1.368 |
| chr4:126748209 | rs77348922 | - | A>C | 232 | 17445 | 18.0 | 2.208e-05 | 1.327 |
| chr15:98254441 | rs66531386 | - | C>T | 243 | 18397 | 17.96 | 2.261e-05 | 1.318 |
| chr1:5121786 | rs74972820 | - | G>T | 689 | 58445 | 17.91 | 2.319e-05 | 1.183 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr22:31381741 | rs8137612 | - | C>T | 179 | 344 | 21.0 | 4.596e-06 | 1.527 |
| chr11:60755517 | rs12418914 | CD6 | A>G | 1951 | 5099 | 20.65 | 5.506e-06 | 1.145 |
| chr21:39190649 | rs2835986 | KCNJ6 | C>A | 4261 | 13145 | 20.5 | 5.953e-06 | 0.8959 |
| chr4:126748209 | rs77348922 | - | A>C | 232 | 472 | 20.49 | 5.999e-06 | 1.441 |
| chr2:150612849 | rs1405223 | - | C>A | 3415 | 9302 | 19.11 | 1.232e-05 | 1.117 |
| chr21:39223338 | rs6517436 | KCNJ6 | A>G | 4240 | 11649 | 19.05 | 1.271e-05 | 1.112 |
| chr11:60727698 | rs9667807 | - | C>G | 2382 | 6334 | 18.99 | 1.312e-05 | 1.129 |
| chr15:98254441 | rs66531386 | - | C>T | 243 | 507 | 18.75 | 1.488e-05 | 1.406 |
| chr3:134109877 | rs11715463 | - | C>T | 1421 | 3658 | 18.69 | 1.537e-05 | 1.158 |
| chr20:15191076 | rs175261 | MACROD2 | A>G | 3387 | 10547 | 18.35 | 1.835e-05 | 0.8984 |
| chr5:102670283 | rs114830057 | - | T>C | 221 | 456 | 18.27 | 1.919e-05 | 1.423 |
| chr8:122008610 | rs34372843 | - | A>G | 796 | 1966 | 18.21 | 1.98e-05 | 1.207 |
| chr9:5636852 | rs7041539 | RIC1 | T>C | 743 | 1810 | 17.92 | 2.308e-05 | 1.211 |
| chr12:3253157 | rs73050143 | TSPAN9 | A>G | 1088 | 3631 | 17.74 | 2.528e-05 | 0.8561 |
| chr8:138076867 | rs72738303 | - | A>G | 727 | 2504 | 17.27 | 3.251e-05 | 0.8331 |
| chr3:161499831 | rs2082980 | - | A>G | 615 | 2147 | 17.01 | 3.71e-05 | 0.8225 |
| chr22:26369358 | rs9306419 | MYO18B | C>T | 1100 | 3658 | 16.95 | 3.836e-05 | 0.8597 |
| chr16:61141075 | rs55663946 | - | G>T | 988 | 2481 | 16.94 | 3.851e-05 | 1.178 |
| chr13:59156184 | rs17600284 | - | G>A | 587 | 2055 | 16.59 | 4.636e-05 | 0.8211 |
| chr13:46749173 | rs2209091 | LCP1 | A>G | 827 | 2052 | 16.55 | 4.733e-05 | 1.191 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N486 | Balanitis xerotica obliterans | 1/20 |
| ICD: R391 | Other difficulties with micturition | 2/20 |