Statistics
| Case | Control |
|---|---|
| 476 | 459718 |
Phenotype Definition
A developmental disturbance with extreme ureteral dilatation. [HPO:probinson]
Phenotype Comment
The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:86592962 | rs114589529 | RASA1 | T>G | 51 | 25140 | 25.72 | 3.954e-07 | 2.043 |
| chr5:129820038 | rs10520079 | - | G>A | 387 | 308467 | 24.42 | 7.734e-07 | 1.378 |
| chr6:137147715 | rs78990055 | PEX7 | C>T | 87 | 51196 | 24.14 | 8.954e-07 | 1.725 |
| chr16:87934168 | rs117974828 | CA5A | C>A | 59 | 31252 | 24.09 | 9.175e-07 | 1.912 |
| chr9:7313773 | rs7034937 | - | C>T | 43 | 20588 | 23.44 | 1.287e-06 | 2.093 |
| chr2:224774148 | rs36053433 | AC093884.1 | C>T | 481 | 397354 | 23.11 | 1.533e-06 | 1.355 |
| chr1:216193231 | rs115907570 | USH2A | C>T | 33 | 14451 | 22.71 | 1.887e-06 | 2.273 |
| chr10:7288067 | rs113814960 | SFMBT2 | C>T | 36 | 16398 | 22.43 | 2.183e-06 | 2.191 |
| chr15:27360951 | rs117959595 | GABRG3 | T>C | 36 | 16594 | 22.01 | 2.714e-06 | 2.176 |
| chr19:6685723 | rs11569538 | C3 | C>G | 118 | 76575 | 21.85 | 2.955e-06 | 1.576 |
| chr19:6686089 | rs11569536 | C3 | G>A | 110 | 70694 | 20.91 | 4.809e-06 | 1.583 |
| chr4:29418193 | rs115643849 | - | T>G | 44 | 22024 | 20.8 | 5.103e-06 | 1.994 |
| chr6:132486893 | rs117000933 | - | C>T | 35 | 16263 | 20.65 | 5.503e-06 | 2.147 |
| chr5:13993495 | rs10513166 | - | C>G | 104 | 67024 | 20.09 | 7.395e-06 | 1.585 |
| chr2:47113046 | rs73926938 | - | A>T | 43 | 21813 | 19.73 | 8.912e-06 | 1.974 |
| chr2:5559013 | rs1524483 | - | T>G | 352 | 283319 | 19.46 | 1.025e-05 | 1.339 |
| chr20:61771527 | rs117748363 | - | G>A | 51 | 27542 | 19.17 | 1.195e-05 | 1.859 |
| chr8:75753309 | rs117087747 | PI15 | G>A | 31 | 14113 | 19.15 | 1.21e-05 | 2.18 |
| chr2:200449063 | rs77187912 | - | A>G | 36 | 17373 | 19.06 | 1.264e-05 | 2.067 |
| chr1:22193100 | rs12125410 | HSPG2 | T>G | 25 | 10546 | 18.92 | 1.364e-05 | 2.353 |
| chr9:7313773 | rs7034937 | - | C>T | 42 | 17671 | 31.27 | 2.25e-08 | 2.356 |
| chr5:129820038 | rs10520079 | - | G>A | 385 | 302786 | 24.72 | 6.641e-07 | 1.388 |
| chr5:86592962 | rs114589529 | RASA1 | T>G | 50 | 24792 | 23.76 | 1.093e-06 | 2.003 |
| chr2:224774148 | rs36053433 | AC093884.1 | C>T | 469 | 381142 | 23.45 | 1.281e-06 | 1.367 |
| chr16:87934168 | rs117974828 | CA5A | C>A | 58 | 30470 | 23.12 | 1.521e-06 | 1.899 |
| chr6:137147715 | rs78990055 | PEX7 | C>T | 86 | 50567 | 22.67 | 1.926e-06 | 1.703 |
| chr1:216193231 | rs115907570 | USH2A | C>T | 33 | 14287 | 22.57 | 2.031e-06 | 2.269 |
| chr2:5559013 | rs1524483 | - | T>G | 343 | 268040 | 22.15 | 2.522e-06 | 1.373 |
| chr20:61771527 | rs117748363 | - | G>A | 49 | 24987 | 21.27 | 3.993e-06 | 1.944 |
| chr20:8930021 | rs3923472 | PLCB1 | T>C | 352 | 407773 | 21.25 | 4.027e-06 | 0.7345 |
| chr19:6686089 | rs11569536 | C3 | G>A | 108 | 68108 | 21.15 | 4.243e-06 | 1.595 |
| chr19:6685723 | rs11569538 | C3 | C>G | 112 | 71481 | 21.09 | 4.39e-06 | 1.581 |
| chr4:29418193 | rs115643849 | - | T>G | 44 | 21660 | 20.99 | 4.607e-06 | 2.002 |
| chr18:42094408 | rs4405635 | - | T>C | 65 | 36411 | 20.48 | 6.021e-06 | 1.776 |
| chr6:132486893 | rs117000933 | - | C>T | 35 | 16097 | 20.45 | 6.114e-06 | 2.141 |
| chr15:27360951 | rs117959595 | GABRG3 | T>C | 35 | 16257 | 20.16 | 7.104e-06 | 2.13 |
| chr8:75753309 | rs117087747 | PI15 | G>A | 31 | 13733 | 19.86 | 8.342e-06 | 2.211 |
| chr13:26942319 | rs12870604 | CDK8 | A>G | 24 | 9658 | 19.68 | 9.158e-06 | 2.432 |
| chr10:78026906 | rs59143342 | LRMDA | A>G | 19 | 6924 | 19.59 | 9.579e-06 | 2.682 |
| chr1:22193100 | rs12125410 | HSPG2 | T>G | 25 | 10394 | 18.95 | 1.341e-05 | 2.356 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:129820038 | rs10520079 | - | G>A | 385 | 2740 | 25.03 | 5.631e-07 | 1.419 |
| chr4:29418193 | rs115643849 | - | T>G | 44 | 180 | 22.53 | 2.064e-06 | 2.215 |
| chr6:132486893 | rs117000933 | - | C>T | 35 | 131 | 22.15 | 2.527e-06 | 2.417 |
| chr8:22050584 | rs73225862 | BMP1 | C>T | 81 | 415 | 22.08 | 2.618e-06 | 1.799 |
| chr19:6686089 | rs11569536 | C3 | G>A | 108 | 602 | 21.84 | 2.968e-06 | 1.669 |
| chr9:7313773 | rs7034937 | - | C>T | 42 | 172 | 21.57 | 3.418e-06 | 2.215 |
| chr19:6685723 | rs11569538 | C3 | C>G | 112 | 636 | 20.74 | 5.253e-06 | 1.634 |
| chr13:102426957 | rs117930662 | FGF14 | T>C | 66 | 330 | 19.57 | 9.708e-06 | 1.837 |
| chr15:27360951 | rs117959595 | GABRG3 | T>C | 35 | 139 | 19.55 | 9.82e-06 | 2.287 |
| chr13:102319288 | rs142050056 | ITGBL1 | G>T | 65 | 322 | 19.51 | 1.003e-05 | 1.843 |
| chr11:87679844 | rs11235392 | - | G>A | 55 | 259 | 19.36 | 1.082e-05 | 1.935 |
| chr11:87882438 | rs111255405 | RAB38 | A>G | 35 | 140 | 19.31 | 1.113e-05 | 2.275 |
| chr10:30881362 | rs10763807 | - | A>G | 96 | 1296 | 19.24 | 1.151e-05 | 0.6148 |
| chr20:8930021 | rs3923472 | PLCB1 | T>C | 352 | 3729 | 18.8 | 1.451e-05 | 0.7367 |
| chr21:21447956 | rs78472477 | - | G>A | 44 | 194 | 18.79 | 1.462e-05 | 2.063 |
| chr7:82297110 | rs118152165 | - | A>G | 38 | 158 | 18.76 | 1.483e-05 | 2.177 |
| chr18:24415567 | rs111606266 | - | G>A | 56 | 268 | 18.63 | 1.587e-05 | 1.9 |
| chr8:21007355 | rs60715093 | - | T>C | 200 | 1318 | 18.48 | 1.716e-05 | 1.439 |
| chr20:22709214 | rs75019639 | - | C>T | 49 | 226 | 18.26 | 1.93e-05 | 1.969 |
| chr17:41653122 | rs72833154 | DHX8 | G>C | 84 | 454 | 18.14 | 2.051e-05 | 1.687 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N134 | Hydroureter | 2/20 |
| ICD: N321 | Vesicointestinal fistula | 1/20 |
| ID | Name | Top Correlation |
|---|