Statistics
| Case | Control |
|---|---|
| 819 | 459375 |
Phenotype Definition
Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr8:113960534 | rs7833953 | CSMD3 | T>C | 161 | 59979 | 26.03 | 3.367e-07 | 1.521 |
| chr12:12068495 | rs11610877 | - | C>T | 70 | 21986 | 23.22 | 1.446e-06 | 1.787 |
| chr10:23975876 | rs74122362 | - | T>A | 103 | 35811 | 22.14 | 2.533e-06 | 1.609 |
| chr8:114016039 | rs16884275 | CSMD3 | G>A | 132 | 48872 | 22.07 | 2.627e-06 | 1.526 |
| chr4:127058428 | rs515514 | - | C>T | 587 | 274436 | 21.31 | 3.901e-06 | 1.262 |
| chr2:131904064 | rs76214160 | PLEKHB2 | A>G | 37 | 9842 | 20.53 | 5.86e-06 | 2.091 |
| chr10:23987536 | rs16923668 | KIAA1217 | A>G | 157 | 61213 | 20.28 | 6.693e-06 | 1.455 |
| chr2:137587435 | rs7583459 | THSD7B | C>T | 63 | 19932 | 20.15 | 7.148e-06 | 1.767 |
| chr23:138798494 | rs2805899 | - | T>C | 175 | 75824 | 19.71 | 9.032e-06 | 1.433 |
| chr2:142760860 | rs921279 | LRP1B | A>G | 74 | 24602 | 19.49 | 1.014e-05 | 1.681 |
| chr13:107561332 | rs9558896 | - | T>C | 399 | 264688 | 19.49 | 1.013e-05 | 0.7783 |
| chr6:100241479 | rs9495569 | - | A>G | 69 | 22634 | 19.35 | 1.09e-05 | 1.707 |
| chr5:67418142 | rs75186313 | - | C>A | 45 | 13128 | 19.28 | 1.128e-05 | 1.921 |
| chr5:150677020 | rs1541644 | SLC36A3 | A>G | 685 | 328688 | 19.27 | 1.132e-05 | 1.239 |
| chr9:20291602 | rs12344091 | - | A>G | 354 | 157047 | 19.25 | 1.148e-05 | 1.297 |
| chr4:41418190 | rs4452462 | LIMCH1 | A>G | 75 | 25152 | 19.09 | 1.249e-05 | 1.666 |
| chr1:232156766 | rs7533169 | DISC1 | G>A | 414 | 188092 | 18.88 | 1.39e-05 | 1.276 |
| chr5:150683463 | rs7356742 | - | T>G | 767 | 373189 | 18.77 | 1.475e-05 | 1.231 |
| chr8:6720111 | rs6990009 | - | G>T | 44 | 12778 | 18.77 | 1.471e-05 | 1.918 |
| chr17:26122511 | rs28998810 | NOS2 | G>A | 71 | 23607 | 18.75 | 1.491e-05 | 1.681 |
| chr12:12068495 | rs11610877 | - | C>T | 68 | 21378 | 24.15 | 8.925e-07 | 1.823 |
| chr23:141153401 | rs4503214 | - | T>C | 436 | 313472 | 22.63 | 1.962e-06 | 0.7502 |
| chr1:97250201 | rs17526199 | PTBP2 | T>C | 52 | 15435 | 22.17 | 2.49e-06 | 1.922 |
| chr5:67418142 | rs75186313 | - | C>A | 45 | 12993 | 21.27 | 3.986e-06 | 1.984 |
| chr8:114016039 | rs16884275 | CSMD3 | G>A | 111 | 40762 | 21.18 | 4.179e-06 | 1.567 |
| chr8:114370406 | rs72670780 | CSMD3 | G>T | 127 | 48075 | 20.96 | 4.69e-06 | 1.523 |
| chr5:107563468 | rs2922426 | FBXL17 | A>G | 700 | 445317 | 20.88 | 4.894e-06 | 0.7958 |
| chr13:95982088 | rs79528179 | - | C>A | 53 | 16079 | 20.7 | 5.36e-06 | 1.871 |
| chr4:178681725 | rs72713676 | - | C>T | 47 | 13691 | 19.97 | 7.874e-06 | 1.918 |
| chr11:78434112 | rs117214320 | TENM4 | C>A | 54 | 16729 | 19.89 | 8.185e-06 | 1.838 |
| chr11:14573261 | rs17567502 | PSMA1 | C>T | 46 | 13588 | 19.81 | 8.544e-06 | 1.925 |
| chr2:137587435 | rs7583459 | THSD7B | C>T | 53 | 16404 | 19.63 | 9.407e-06 | 1.841 |
| chr1:77989923 | rs12754946 | AK5 | T>C | 805 | 401294 | 19.41 | 1.057e-05 | 1.244 |
| chr8:6720111 | rs6990009 | - | G>T | 33 | 8787 | 19.32 | 1.108e-05 | 2.13 |
| chr1:232156766 | rs7533169 | DISC1 | G>A | 388 | 178141 | 19.23 | 1.156e-05 | 1.29 |
| chr13:53309144 | rs4885947 | CNMD | A>C | 102 | 37496 | 19.12 | 1.227e-05 | 1.559 |
| chr17:26122511 | rs28998810 | NOS2 | G>A | 69 | 23189 | 18.89 | 1.382e-05 | 1.698 |
| chr8:113960534 | rs7833953 | CSMD3 | T>C | 121 | 46208 | 18.81 | 1.441e-05 | 1.503 |
| chr14:71076645 | rs72719785 | - | G>A | 82 | 28853 | 18.62 | 1.597e-05 | 1.624 |
| chr23:138798494 | rs2805899 | - | T>C | 139 | 59715 | 18.52 | 1.681e-05 | 1.473 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr12:50342034 | rs76609774 | - | C>T | 17 | 14 | 31.4 | 2.103e-08 | 0.1622 |
| chr1:164276414 | rs972378 | - | G>A | 29 | 18 | 29.63 | 5.238e-08 | 0.2148 |
| chr11:117637852 | rs117461065 | DSCAML1 | G>A | 19 | 14 | 26.91 | 2.13e-07 | 0.1871 |
| chr5:17508191 | rs151056670 | - | A>G | 42 | 21 | 26.05 | 3.331e-07 | 0.2657 |
| chr4:13533571 | rs75682394 | - | A>G | 68 | 28 | 24.89 | 6.077e-07 | 0.3236 |
| chr5:17680532 | rs72742692 | - | G>A | 45 | 21 | 22.87 | 1.732e-06 | 0.2896 |
| chr1:163380744 | rs4492594 | - | A>G | 29 | 16 | 22.69 | 1.902e-06 | 0.2436 |
| chr11:61333948 | rs72914262 | SYT7 | C>A | 20 | 13 | 22.61 | 1.982e-06 | 0.2075 |
| chr16:6220794 | rs78691040 | RBFOX1 | T>C | 26 | 15 | 22.51 | 2.095e-06 | 0.2336 |
| chr4:46101814 | rs13126197 | GABRG1 | T>C | 20 | 13 | 22.47 | 2.133e-06 | 0.2085 |
| chr20:3778704 | Affx-16687356 | CDC25B | G>A | 27 | 15 | 21.79 | 3.044e-06 | 0.2399 |
| chr4:174893691 | rs113767081 | - | T>C | 40 | 19 | 21.73 | 3.143e-06 | 0.2824 |
| chr16:10711883 | rs112414296 | - | A>C | 15 | 11 | 21.69 | 3.2e-06 | 0.1857 |
| chr16:31158647 | rs28385574 | PRSS36 | C>T | 158 | 46 | 21.6 | 3.355e-06 | 0.4323 |
| chr17:68199173 | rs78011864 | - | A>T | 21 | 13 | 21.55 | 3.44e-06 | 0.2168 |
| chr11:105985504 | rs55672718 | - | G>A | 173 | 49 | 21.43 | 3.674e-06 | 0.4428 |
| chr2:173931887 | rs115512949 | - | A>G | 24 | 14 | 21.1 | 4.357e-06 | 0.233 |
| chr10:133194080 | rs117777107 | - | C>T | 21 | 13 | 21.05 | 4.465e-06 | 0.2201 |
| chr10:107612556 | rs4568931 | - | A>G | 4 | 6 | 20.93 | 4.776e-06 | 0.09232 |
| chr3:4574513 | rs115637886 | ITPR1 | A>G | 53 | 22 | 20.86 | 4.929e-06 | 0.3169 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: A499 | Bacterial infection, unspecified | 1/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: A498 | Other bacterial infections of unspecified site | 0/20 |
| ICD-10: R845 | Abnormal microbiological findings | 0/20 |