Statistics
| Case | Control |
|---|---|
| 6227 | 453967 |
Phenotype Definition
Congenital absence of the colon []
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 5272 | 357415 | 58.44 | 2.1e-14 | 1.147 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 5939 | 470164 | 56.35 | 6.06e-14 | 0.8755 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 5784 | 457309 | 53.2 | 3.006e-13 | 0.8787 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 5928 | 467213 | 51.04 | 9.044e-13 | 0.8813 |
| chr8:117630683 | rs16892766 | - | A>C | 1272 | 77425 | 50.46 | 1.216e-12 | 1.235 |
| chr10:80819132 | rs704017 | - | G>A | 5278 | 416259 | 41.51 | 1.174e-10 | 0.8907 |
| chr20:6404281 | rs961253 | - | C>A | 4955 | 340595 | 36.89 | 1.251e-09 | 1.117 |
| chr20:6377965 | rs432266 | - | C>T | 4481 | 307233 | 34.43 | 4.415e-09 | 1.115 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 4136 | 282979 | 32.41 | 1.249e-08 | 1.114 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 4617 | 318031 | 31.84 | 1.672e-08 | 1.11 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 4950 | 388453 | 31.79 | 1.714e-08 | 0.9024 |
| chr6:55708497 | rs2023523 | BMP5 | A>G | 4946 | 387887 | 31.37 | 2.128e-08 | 0.9032 |
| chr14:99777178 | rs2089681 | - | A>G | 1856 | 121379 | 30.51 | 3.327e-08 | 1.15 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 5525 | 384627 | 29.87 | 4.608e-08 | 1.102 |
| chr19:49232226 | rs2287922 | RASIP1 | A>G | 5945 | 461518 | 29.78 | 4.841e-08 | 0.9079 |
| chr8:117640315 | rs11986063 | - | C>T | 1362 | 87163 | 29.55 | 5.461e-08 | 1.17 |
| chr19:49228272 | rs2287921 | RASIP1 | C>T | 5947 | 461447 | 29.01 | 7.186e-08 | 0.9091 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 5531 | 385352 | 28.75 | 8.252e-08 | 1.1 |
| chr11:111165009 | rs7103178 | - | T>C | 4222 | 290661 | 28.22 | 1.082e-07 | 1.105 |
| chr12:4400808 | rs3217874 | AC008012.1 | C>T | 5969 | 417434 | 28.13 | 1.133e-07 | 1.098 |
| chr8:128424792 | rs7014346 | POU5F1B | G>A | 5052 | 337939 | 59.13 | 1.477e-14 | 1.152 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 5689 | 445343 | 56.15 | 6.715e-14 | 0.8731 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 5577 | 437184 | 55.97 | 7.372e-14 | 0.8731 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 5547 | 433131 | 47.88 | 4.542e-12 | 0.8818 |
| chr8:117630683 | rs16892766 | - | A>C | 1193 | 71919 | 46.51 | 9.105e-12 | 1.232 |
| chr10:80819132 | rs704017 | - | G>A | 4971 | 387743 | 38.99 | 4.263e-10 | 0.8912 |
| chr8:117640315 | rs11986063 | - | C>T | 1269 | 79117 | 33.48 | 7.195e-09 | 1.188 |
| chr8:128428638 | Affx-31548678 | POU5F1B | G>A | 4758 | 369738 | 32.66 | 1.099e-08 | 0.899 |
| chr20:6404281 | rs961253 | - | C>A | 4743 | 323804 | 31.25 | 2.263e-08 | 1.11 |
| chr6:55708497 | rs2023523 | BMP5 | A>G | 4696 | 364317 | 30.42 | 3.473e-08 | 0.9024 |
| chr12:51138862 | rs1047912 | DIP2B | C>T | 4010 | 272114 | 29.26 | 6.316e-08 | 1.11 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 5310 | 365830 | 27.86 | 1.302e-07 | 1.101 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 5303 | 365477 | 27.36 | 1.693e-07 | 1.1 |
| chr20:6377965 | rs432266 | - | C>T | 4336 | 296158 | 27.23 | 1.805e-07 | 1.104 |
| chr12:51032415 | rs12818741 | DIP2B | A>G | 4688 | 320427 | 27.2 | 1.83e-07 | 1.102 |
| chr14:99777178 | rs2089681 | - | A>G | 1823 | 118629 | 27.15 | 1.881e-07 | 1.142 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 5310 | 366268 | 26.83 | 2.218e-07 | 1.099 |
| chr1:10752990 | rs60449700 | CASZ1 | A>G | 587 | 34772 | 26.01 | 3.39e-07 | 1.242 |
| chr8:128428795 | Affx-31548681 | POU5F1B | A>G | 6449 | 449284 | 25.64 | 4.11e-07 | 1.096 |
| chr12:50934931 | rs11169484 | DIP2B | G>A | 4647 | 319523 | 25.45 | 4.549e-07 | 1.099 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr22:45856865 | rs34400920 | - | A>G | 566 | 63 | 32.33 | 1.302e-08 | 0.4625 |
| chr12:5497608 | rs7296259 | - | C>T | 150 | 25 | 30.32 | 3.672e-08 | 0.3178 |
| chr4:110940045 | rs4698804 | - | T>C | 198 | 29 | 27.56 | 1.524e-07 | 0.3605 |
| chr20:8528408 | rs2206423 | PLCB1 | T>C | 847 | 82 | 27.5 | 1.57e-07 | 0.5307 |
| chr12:101856596 | rs7965233 | - | A>G | 2281 | 177 | 25.76 | 3.863e-07 | 0.636 |
| chr8:141716284 | rs10100025 | PTK2 | G>A | 108 | 19 | 25.32 | 4.846e-07 | 0.3024 |
| chr15:31217593 | rs55635408 | FAN1 | T>C | 118 | 20 | 25.24 | 5.054e-07 | 0.3119 |
| chr15:31508771 | rs8029583 | - | A>G | 252 | 33 | 24.65 | 6.86e-07 | 0.4029 |
| chr16:66391749 | rs11864674 | - | C>A | 265 | 34 | 24.52 | 7.343e-07 | 0.409 |
| chr9:23159696 | rs11998789 | - | G>T | 221 | 30 | 24.27 | 8.369e-07 | 0.3893 |
| chr4:76788564 | rs34155925 | PPEF2 | C>T | 112 | 19 | 23.82 | 1.057e-06 | 0.3132 |
| chr15:101902660 | rs12594076 | PCSK6 | G>T | 202 | 28 | 23.81 | 1.062e-06 | 0.3808 |
| chr17:54741504 | rs1005331 | - | C>A | 471 | 51 | 23.71 | 1.118e-06 | 0.4827 |
| chr9:107820817 | rs73664402 | - | G>A | 758 | 73 | 23.7 | 1.124e-06 | 0.5383 |
| chr1:57031938 | rs41446844 | PLPP3 | A>G | 342 | 40 | 23.53 | 1.229e-06 | 0.4441 |
| chr21:25305610 | rs2828634 | - | T>C | 974 | 88 | 23.44 | 1.287e-06 | 0.5669 |
| chr1:28137264 | rs11810664 | STX12 | A>G | 400 | 45 | 23.31 | 1.376e-06 | 0.4653 |
| chr2:37581367 | rs72864855 | QPCT | A>G | 552 | 57 | 23.17 | 1.481e-06 | 0.5036 |
| chr15:31162371 | rs72727511 | - | G>A | 114 | 19 | 23.14 | 1.508e-06 | 0.3184 |
| chr15:101900592 | rs58213191 | PCSK6 | T>C | 184 | 26 | 23.11 | 1.528e-06 | 0.3733 |
| chr15:31217593 | rs55635408 | FAN1 | T>C | 117 | 20 | 26.93 | 2.111e-07 | 0.3009 |
| chr15:31162371 | rs72727511 | - | G>A | 113 | 19 | 24.85 | 6.2e-07 | 0.3062 |
| chr5:92756059 | rs114394123 | - | C>A | 500 | 52 | 24.65 | 6.874e-07 | 0.4783 |
| chr12:81925804 | rs17008663 | PPFIA2 | A>G | 130 | 20 | 22.26 | 2.375e-06 | 0.3344 |
| chr3:185928063 | rs741481 | DGKG | T>C | 5401 | 224 | 21.62 | 3.327e-06 | 1.477 |
| chr5:9617380 | rs385 | - | A>G | 3999 | 268 | 21.13 | 4.301e-06 | 0.6882 |
| chr22:45856865 | rs34400920 | - | A>G | 487 | 49 | 20.27 | 6.737e-06 | 0.503 |
| chr13:84281120 | rs117555197 | - | G>T | 190 | 25 | 20.05 | 7.545e-06 | 0.3921 |
| chr9:115759519 | rs10981589 | ZNF883 | G>A | 656 | 61 | 19.84 | 8.4e-06 | 0.5402 |
| chr18:75607548 | rs1021946 | - | C>T | 411 | 43 | 19.69 | 9.109e-06 | 0.487 |
| chr16:66391749 | rs11864674 | - | C>A | 182 | 24 | 19.61 | 9.518e-06 | 0.3891 |
| chr6:17325881 | rs34867468 | - | C>A | 193 | 25 | 19.57 | 9.702e-06 | 0.3966 |
| chr11:63605663 | rs11231603 | - | G>A | 698 | 64 | 19.57 | 9.684e-06 | 0.5496 |
| chr15:38165688 | rs16965813 | - | A>G | 1928 | 144 | 19.5 | 1.006e-05 | 0.652 |
| chr2:52098998 | rs1435802 | - | A>G | 4471 | 180 | 19.4 | 1.057e-05 | 1.48 |
| chr9:25588101 | rs7854832 | - | A>G | 109 | 17 | 19.27 | 1.138e-05 | 0.332 |
| chr5:77225324 | rs17187970 | - | G>A | 376 | 40 | 19.16 | 1.203e-05 | 0.48 |
| chr23:152644566 | rs72616432 | - | C>G | 458 | 50 | 18.95 | 1.342e-05 | 0.5124 |
| chr20:8528408 | rs2206423 | PLCB1 | T>C | 760 | 68 | 18.92 | 1.362e-05 | 0.5638 |
| chr6:111910850 | rs112724847 | TRAF3IP2 | G>A | 130 | 19 | 18.82 | 1.437e-05 | 0.3555 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C180 | Caecum | 1/20 |
| ICD: D120 | Caecum | 8/20 |
| ICD: D122 | Ascending colon | 9/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: C182 | Ascending colon | 0/20 |