Statistics
| Female Case | Female Control | % Female |
|---|---|---|
| 3441 | 246416 | 41% |
| Male Case | Male Control | % Male |
|---|---|---|
| 5054 | 205283 | 59% |
Phenotype Definition
Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. [Eurenomics:ewuehl]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 2446 | 157498 | 53.96 | 2.047e-13 | 1.202 |
| chr11:111165009 | rs7103178 | - | T>C | 2447 | 158134 | 50.7 | 1.074e-12 | 1.196 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 2635 | 172837 | 45.09 | 1.884e-11 | 1.18 |
| chr11:111181120 | rs7947952 | - | T>C | 3103 | 244744 | 36.06 | 1.917e-09 | 0.8657 |
| chr12:4706369 | rs7305150 | DYRK4 | T>C | 3247 | 255441 | 34.77 | 3.719e-09 | 0.8685 |
| chr5:40265904 | rs1348612 | - | A>G | 2227 | 145872 | 34.48 | 4.298e-09 | 1.163 |
| chr11:111213944 | rs12365324 | - | G>A | 3050 | 205055 | 33.58 | 6.846e-09 | 1.15 |
| chr11:111179054 | rs3087587 | COLCA2 | G>A | 3006 | 236394 | 30.12 | 4.058e-08 | 0.8761 |
| chr11:111202486 | rs1893990 | - | C>T | 3464 | 236377 | 27.34 | 1.711e-07 | 1.133 |
| chr4:113868183 | rs77023571 | ANK2 | A>C | 36 | 6014 | 26.33 | 2.88e-07 | 0.4337 |
| chr7:46866208 | rs9791388 | - | C>T | 2286 | 152389 | 26.27 | 2.97e-07 | 1.14 |
| chr10:8741986 | rs35062044 | - | T>G | 1856 | 153349 | 25.82 | 3.749e-07 | 0.8683 |
| chr5:954012 | rs10475466 | - | G>A | 347 | 32757 | 24.64 | 6.916e-07 | 0.7605 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 3278 | 254672 | 24.64 | 6.928e-07 | 0.8881 |
| chr10:8701219 | rs10795668 | - | G>A | 2082 | 166188 | 23.94 | 9.917e-07 | 0.8797 |
| chr11:113910276 | rs7934726 | - | T>C | 241 | 23930 | 23.84 | 1.047e-06 | 0.726 |
| chr5:40228560 | rs353366 | - | T>C | 3184 | 218733 | 23.48 | 1.262e-06 | 1.124 |
| chr8:43425133 | rs73569666 | - | A>G | 313 | 29778 | 23.3 | 1.383e-06 | 0.7558 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 148 | 15896 | 22.87 | 1.735e-06 | 0.6727 |
| chr8:43317594 | rs2978831 | - | G>C | 337 | 31652 | 22.36 | 2.259e-06 | 0.7675 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 2342 | 149009 | 46.52 | 9.066e-12 | 1.191 |
| chr11:111165009 | rs7103178 | - | T>C | 2344 | 149363 | 44.99 | 1.984e-11 | 1.187 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 2568 | 166784 | 37.61 | 8.634e-10 | 1.167 |
| chr11:111181120 | rs7947952 | - | T>C | 2906 | 224687 | 31.67 | 1.823e-08 | 0.8708 |
| chr5:40265904 | rs1348612 | - | A>G | 2184 | 141866 | 28.03 | 1.193e-07 | 1.148 |
| chr12:4706369 | rs7305150 | DYRK4 | T>C | 3036 | 233089 | 26.8 | 2.257e-07 | 0.8811 |
| chr10:8701219 | rs10795668 | - | G>A | 2036 | 160440 | 26.64 | 2.456e-07 | 0.8718 |
| chr8:117640315 | rs11986063 | - | C>T | 722 | 42944 | 26.62 | 2.471e-07 | 1.227 |
| chr7:46866208 | rs9791388 | - | C>T | 2181 | 142479 | 26.05 | 3.319e-07 | 1.143 |
| chr10:8741986 | rs35062044 | - | T>G | 1800 | 146125 | 26.04 | 3.35e-07 | 0.8655 |
| chr11:111213944 | rs12365324 | - | G>A | 2998 | 199851 | 25.97 | 3.465e-07 | 1.133 |
| chr11:111179054 | rs3087587 | COLCA2 | G>A | 2810 | 216381 | 25.55 | 4.31e-07 | 0.8826 |
| chr8:117630683 | rs16892766 | - | A>C | 658 | 39068 | 24.67 | 6.821e-07 | 1.227 |
| chr7:101449071 | rs17135804 | - | G>A | 177 | 8798 | 23.85 | 1.044e-06 | 1.453 |
| chr6:36645588 | rs762624 | CDKN1A | A>C | 1971 | 128621 | 23.3 | 1.383e-06 | 1.139 |
| chr4:76060129 | rs10034825 | - | A>G | 1058 | 65964 | 22.98 | 1.638e-06 | 1.175 |
| chr11:111202486 | rs1893990 | - | C>T | 3380 | 227838 | 22.4 | 2.213e-06 | 1.122 |
| chr18:5103881 | rs292301 | - | C>T | 1447 | 92623 | 22.26 | 2.383e-06 | 1.151 |
| chr15:100872565 | rs8025271 | ADAMTS17 | G>C | 2425 | 160925 | 21.08 | 4.396e-06 | 1.124 |
| chr7:46826056 | rs1525231 | - | T>C | 1943 | 127381 | 20.91 | 4.807e-06 | 1.132 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 4674 | 213479 | 74.24 | 6.911e-18 | 0.8424 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 523 | 30328 | 60.66 | 6.776e-15 | 0.7042 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 3486 | 130267 | 57.52 | 3.351e-14 | 1.172 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 148 | 11334 | 57.29 | 3.767e-14 | 0.5375 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 434 | 25718 | 56.7 | 5.088e-14 | 0.6906 |
| chr11:111165009 | rs7103178 | - | T>C | 3491 | 130811 | 54.38 | 1.649e-13 | 1.167 |
| chr15:48392165 | rs1834640 | - | A>G | 189 | 13278 | 53.49 | 2.597e-13 | 0.586 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 87 | 7638 | 50.96 | 9.438e-13 | 0.47 |
| chr2:171380643 | rs34020565 | MYO3B | T>G | 149 | 11021 | 50.62 | 1.118e-12 | 0.5583 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 99 | 8241 | 49.52 | 1.962e-12 | 0.4963 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 3770 | 143406 | 47.72 | 4.91e-12 | 1.153 |
| chr12:56722060 | rs1918496 | PAN2 | G>T | 43 | 4854 | 46.55 | 8.942e-12 | 0.3662 |
| chr16:29035406 | rs74014848 | - | A>G | 124 | 9365 | 45.53 | 1.507e-11 | 0.5464 |
| chr12:56755058 | rs4301822 | APOF | A>G | 52 | 5289 | 44.41 | 2.661e-11 | 0.4064 |
| chr6:3185712 | rs7754077 | - | C>T | 100 | 7989 | 44.2 | 2.965e-11 | 0.5167 |
| chr3:123429182 | rs820338 | MYLK | C>T | 94 | 7661 | 44.15 | 3.045e-11 | 0.5068 |
| chr2:226686177 | rs7581591 | - | T>C | 107 | 8334 | 43.27 | 4.777e-11 | 0.5311 |
| chr17:9586811 | rs73975789 | USP43 | A>G | 68 | 6154 | 43.18 | 5.003e-11 | 0.4567 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 123 | 9106 | 42.22 | 8.149e-11 | 0.5571 |
| chr3:149925742 | rs7629443 | - | T>C | 120 | 8916 | 41.66 | 1.089e-10 | 0.5554 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 4447 | 196203 | 56.83 | 4.753e-14 | 0.8581 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 3370 | 123422 | 49.94 | 1.587e-12 | 1.163 |
| chr11:111165009 | rs7103178 | - | T>C | 3370 | 123716 | 47.16 | 6.54e-12 | 1.158 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 3676 | 138152 | 34.09 | 5.263e-09 | 1.13 |
| chr8:117630683 | rs16892766 | - | A>C | 955 | 32431 | 32.4 | 1.255e-08 | 1.217 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 2453 | 109961 | 32.23 | 1.37e-08 | 0.8753 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 4576 | 197468 | 31.72 | 1.785e-08 | 0.8924 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 4673 | 201119 | 29.94 | 4.464e-08 | 0.8954 |
| chr8:117640315 | rs11986063 | - | C>T | 1030 | 35690 | 28.26 | 1.058e-07 | 1.194 |
| chr18:46459032 | rs4464148 | SMAD7 | T>C | 3284 | 123449 | 27.84 | 1.316e-07 | 1.12 |
| chr11:74414919 | rs11607100 | CHRDL2 | C>T | 321 | 17167 | 25.12 | 5.384e-07 | 0.7513 |
| chr18:60845776 | rs72943036 | BCL2 | C>T | 741 | 35937 | 24.93 | 5.939e-07 | 0.8251 |
| chr10:101247626 | rs77880513 | - | T>G | 1242 | 44091 | 24.67 | 6.789e-07 | 1.165 |
| chr10:101246530 | rs12253147 | - | T>C | 1245 | 44235 | 24.56 | 7.207e-07 | 1.164 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 4314 | 165393 | 24.19 | 8.725e-07 | 1.105 |
| chr1:175839509 | rs12034224 | - | C>T | 2963 | 111256 | 24.14 | 8.944e-07 | 1.115 |
| chr2:31961182 | rs11678843 | - | G>C | 2924 | 109785 | 24.13 | 9.009e-07 | 1.115 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 4325 | 165745 | 23.96 | 9.855e-07 | 1.105 |
| chr14:70377419 | rs78663340 | SMOC1 | G>C | 1370 | 49077 | 23.9 | 1.012e-06 | 1.155 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 4317 | 165573 | 23.36 | 1.342e-06 | 1.104 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C187 | Sigmoid colon | 2/20 |
| ICD: D125 | Sigmoid colon | 16/20 |
| ID | Name | Top Correlation |
|---|