Statistics
| Case | Control |
|---|---|
| 3389 | 456805 |
Phenotype Definition
Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48392165 | rs1834640 | - | A>G | 101 | 31523 | 73.31 | 1.106e-17 | 0.4338 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 86 | 27440 | 65.53 | 5.717e-16 | 0.4259 |
| chr1:110232983 | rs140584594 | GSTM2 | G>A | 1584 | 255728 | 51.52 | 7.105e-13 | 0.8138 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 336 | 66722 | 48.04 | 4.184e-12 | 0.6797 |
| chr8:143759364 | rs2976387 | JRK | G>A | 3205 | 402623 | 47.57 | 5.309e-12 | 1.18 |
| chr8:143763547 | rs1045531 | PSCA | C>A | 3356 | 424361 | 46.37 | 9.78e-12 | 1.177 |
| chr5:9203914 | rs1805972 | SEMA5A | T>C | 158 | 36516 | 44.62 | 2.393e-11 | 0.5872 |
| chr8:143761931 | rs2294008 | JRK | C>T | 3350 | 423175 | 43.87 | 3.502e-11 | 1.173 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 76 | 21867 | 43.75 | 3.724e-11 | 0.4739 |
| chr14:33956209 | rs1012023 | NPAS3 | C>A | 139 | 32921 | 42.62 | 6.654e-11 | 0.575 |
| chr20:2315543 | rs6132532 | AL121899.2 | A>G | 238 | 49296 | 41.67 | 1.078e-10 | 0.6547 |
| chr8:128718068 | rs9642880 | - | G>T | 3466 | 442186 | 39.85 | 2.748e-10 | 1.163 |
| chr3:69225588 | rs11128118 | FRMD4B | G>T | 87 | 23165 | 39.76 | 2.866e-10 | 0.5122 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 288 | 56704 | 38.74 | 4.834e-10 | 0.6884 |
| chr13:72441665 | rs3759505 | - | C>T | 54 | 16661 | 37.41 | 9.561e-10 | 0.443 |
| chr19:42391425 | rs28521795 | ARHGEF1 | G>A | 65 | 18757 | 37.37 | 9.752e-10 | 0.4744 |
| chr6:3185712 | rs7754077 | - | C>T | 65 | 18607 | 36.73 | 1.354e-09 | 0.4773 |
| chr1:25589335 | rs28670433 | RSRP1 | A>G | 44 | 14589 | 36.31 | 1.684e-09 | 0.4133 |
| chr8:27324429 | rs3824103 | CHRNA2 | T>C | 165 | 35940 | 36.31 | 1.685e-09 | 0.6241 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 73 | 19937 | 35.91 | 2.071e-09 | 0.5004 |
| chr8:128718068 | rs9642880 | - | G>T | 3332 | 409750 | 50.95 | 9.455e-13 | 1.19 |
| chr1:110232983 | rs140584594 | GSTM2 | G>A | 1512 | 235396 | 40.58 | 1.891e-10 | 0.8295 |
| chr8:143763547 | rs1045531 | PSCA | C>A | 3236 | 401513 | 39.92 | 2.647e-10 | 1.167 |
| chr8:143761931 | rs2294008 | JRK | C>T | 3229 | 399905 | 38.79 | 4.725e-10 | 1.165 |
| chr5:1342714 | rs31489 | CLPTM1L | C>A | 2522 | 373091 | 36.51 | 1.515e-09 | 0.8587 |
| chr8:143759364 | rs2976387 | JRK | G>A | 3108 | 385606 | 36.11 | 1.86e-09 | 1.158 |
| chr5:1322087 | rs401681 | CLPTM1L | C>T | 2740 | 400758 | 33.39 | 7.555e-09 | 0.8664 |
| chr8:143753546 | rs13264644 | JRK | A>G | 2670 | 390770 | 29.55 | 5.436e-08 | 0.873 |
| chr8:143814193 | rs2585135 | THEM6 | G>A | 2911 | 422432 | 29.26 | 6.336e-08 | 0.8752 |
| chr5:1297488 | rs2736108 | - | C>T | 2259 | 276641 | 29.05 | 7.058e-08 | 1.15 |
| chr5:1315660 | rs4975616 | - | A>G | 2636 | 384590 | 28.69 | 8.474e-08 | 0.8747 |
| chr8:143844051 | rs7000648 | - | C>T | 2409 | 351854 | 27.73 | 1.394e-07 | 0.8741 |
| chr8:143844819 | rs7005613 | - | C>T | 2512 | 365460 | 25.44 | 4.566e-07 | 0.8805 |
| chr5:1320722 | rs402710 | CLPTM1L | C>T | 2147 | 315282 | 24.43 | 7.69e-07 | 0.8786 |
| chr5:1287194 | rs2853677 | TERT | A>G | 3060 | 385701 | 24.08 | 9.228e-07 | 1.128 |
| chr8:143782044 | rs2585174 | LY6K | A>G | 3135 | 448694 | 22.91 | 1.701e-06 | 0.8896 |
| chr5:79401290 | rs6862233 | - | A>G | 2060 | 253857 | 22.27 | 2.364e-06 | 1.133 |
| chr4:1734239 | rs798766 | TACC3 | C>T | 1446 | 174279 | 22.19 | 2.469e-06 | 1.15 |
| chr20:10993288 | Affx-16343868 | - | A>G | 2422 | 302456 | 21.83 | 2.986e-06 | 1.126 |
| chr8:143875832 | rs2585158 | - | C>T | 2519 | 364970 | 21.76 | 3.084e-06 | 0.8889 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr8:128718068 | rs9642880 | - | G>T | 3332 | 40868 | 46.73 | 8.137e-12 | 1.188 |
| chr5:1342714 | rs31489 | CLPTM1L | C>A | 2522 | 37308 | 36.89 | 1.251e-09 | 0.8539 |
| chr8:143763547 | rs1045531 | PSCA | C>A | 3236 | 40165 | 34.54 | 4.174e-09 | 1.16 |
| chr1:110232983 | rs140584594 | GSTM2 | G>A | 1512 | 23273 | 34.27 | 4.809e-09 | 0.8378 |
| chr8:143761931 | rs2294008 | JRK | C>T | 3229 | 39922 | 34.23 | 4.888e-09 | 1.16 |
| chr5:1322087 | rs401681 | CLPTM1L | C>T | 2740 | 40086 | 34.12 | 5.192e-09 | 0.861 |
| chr8:143759364 | rs2976387 | JRK | G>A | 3108 | 38567 | 31.11 | 2.438e-08 | 1.151 |
| chr5:1315660 | rs4975616 | - | A>G | 2636 | 38413 | 28.57 | 9.027e-08 | 0.8712 |
| chr8:143753546 | rs13264644 | JRK | A>G | 2670 | 38913 | 27.2 | 1.838e-07 | 0.8742 |
| chr5:1320722 | rs402710 | CLPTM1L | C>T | 2147 | 31568 | 25.33 | 4.84e-07 | 0.8729 |
| chr8:143814193 | rs2585135 | THEM6 | G>A | 2911 | 41995 | 25.25 | 5.043e-07 | 0.88 |
| chr5:1297488 | rs2736108 | - | C>T | 2259 | 27744 | 23.74 | 1.102e-06 | 1.139 |
| chr4:1689377 | rs811316 | - | C>T | 1427 | 17050 | 22.71 | 1.884e-06 | 1.159 |
| chr4:1734239 | rs798766 | TACC3 | C>T | 1446 | 17281 | 22.62 | 1.971e-06 | 1.158 |
| chr8:143844051 | rs7000648 | - | C>T | 2409 | 34837 | 22.12 | 2.559e-06 | 0.8834 |
| chr20:20482776 | rs77747173 | RALGAPA2 | A>G | 343 | 3558 | 21.97 | 2.764e-06 | 1.311 |
| chr2:60308702 | rs114267655 | - | T>C | 156 | 1433 | 21.04 | 4.5e-06 | 1.475 |
| chr4:1745500 | rs4865467 | TACC3 | G>T | 1438 | 17272 | 20.79 | 5.117e-06 | 1.151 |
| chr4:37748195 | rs35918801 | - | A>G | 1450 | 17411 | 20.53 | 5.87e-06 | 1.15 |
| chr8:143844819 | rs7005613 | - | C>T | 2512 | 36190 | 20.19 | 7.029e-06 | 0.8896 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C679 | Bladder, unspecified | 12/20 |