Statistics
| Case | Control |
|---|---|
| 2746 | 457448 |
Phenotype Definition
A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. [DDD:dbrown]
Phenotype Comment
The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr4:107630738 | rs115560330 | - | A>G | 168 | 19324 | 24.55 | 7.258e-07 | 1.473 |
| chr1:75275535 | rs61788837 | - | C>T | 2516 | 391802 | 24.23 | 8.563e-07 | 1.14 |
| chr2:149997939 | rs75744662 | LYPD6B | C>A | 222 | 27294 | 22.3 | 2.33e-06 | 1.381 |
| chr6:105998547 | rs9486151 | - | A>G | 45 | 14870 | 21.59 | 3.382e-06 | 0.5051 |
| chr12:107127704 | rs117418380 | RFX4 | C>T | 615 | 86738 | 20.62 | 5.593e-06 | 1.214 |
| chr1:65083134 | rs1548038 | CACHD1 | A>G | 805 | 156632 | 20.61 | 5.628e-06 | 0.8413 |
| chr9:26273358 | rs990328 | - | A>G | 278 | 60721 | 20.61 | 5.621e-06 | 0.7566 |
| chr18:22493939 | rs62085779 | - | G>C | 287 | 37149 | 20.17 | 7.085e-06 | 1.313 |
| chr5:177915428 | rs7730172 | COL23A1 | C>T | 55 | 16703 | 20.07 | 7.481e-06 | 0.5494 |
| chr5:133249555 | rs3892476 | - | C>T | 1783 | 326172 | 19.94 | 7.981e-06 | 0.8803 |
| chr12:44609240 | rs79260132 | TMEM117 | T>G | 181 | 21968 | 19.68 | 9.173e-06 | 1.398 |
| chr3:97680074 | rs832081 | RIOX2 | G>A | 198 | 24359 | 19.65 | 9.282e-06 | 1.378 |
| chr4:73154875 | rs1913374 | ADAMTS3 | G>T | 1286 | 239850 | 19.6 | 9.54e-06 | 0.8691 |
| chr8:68723096 | rs4371989 | - | G>C | 2713 | 427914 | 19.28 | 1.127e-05 | 1.123 |
| chr2:200900075 | rs115141094 | - | T>C | 167 | 20082 | 19.17 | 1.196e-05 | 1.41 |
| chr15:87437899 | rs12441511 | AGBL1 | A>G | 87 | 23105 | 18.99 | 1.316e-05 | 0.6267 |
| chr4:111217233 | rs17440809 | - | A>G | 149 | 17609 | 18.86 | 1.403e-05 | 1.434 |
| chr2:165632797 | rs78991040 | COBLL1 | G>A | 197 | 24385 | 18.85 | 1.414e-05 | 1.37 |
| chr12:44532439 | rs78907079 | TMEM117 | G>A | 254 | 32616 | 18.79 | 1.459e-05 | 1.321 |
| chr9:4497022 | rs72687835 | SLC1A1 | C>T | 152 | 18054 | 18.61 | 1.602e-05 | 1.425 |
| chr4:107630738 | rs115560330 | - | A>G | 166 | 18818 | 25.2 | 5.156e-07 | 1.485 |
| chr18:22493939 | rs62085779 | - | G>C | 268 | 33440 | 23.21 | 1.454e-06 | 1.352 |
| chr2:149997939 | rs75744662 | LYPD6B | C>A | 221 | 26809 | 23.0 | 1.622e-06 | 1.39 |
| chr25:2535445 | rs2174468 | - | A>G | 343 | 44749 | 21.72 | 3.149e-06 | 1.297 |
| chr14:69601540 | rs112610997 | DCAF5 | T>G | 197 | 23837 | 20.66 | 5.476e-06 | 1.391 |
| chr12:33831374 | rs10844683 | - | C>T | 1482 | 272584 | 20.58 | 5.723e-06 | 0.8709 |
| chr12:37907005 | rs4427643 | - | C>A | 1824 | 331564 | 20.32 | 6.544e-06 | 0.8769 |
| chr18:22528454 | rs16941119 | - | G>A | 260 | 32953 | 20.11 | 7.326e-06 | 1.33 |
| chr4:174072292 | rs6553679 | - | T>C | 1919 | 345977 | 20.05 | 7.555e-06 | 0.8807 |
| chr9:4497022 | rs72687835 | SLC1A1 | C>T | 149 | 17309 | 19.78 | 8.694e-06 | 1.446 |
| chr1:75275535 | rs61788837 | - | C>T | 2447 | 380733 | 19.75 | 8.838e-06 | 1.129 |
| chr12:107127704 | rs117418380 | RFX4 | C>T | 592 | 82922 | 19.62 | 9.451e-06 | 1.213 |
| chr2:200900075 | rs115141094 | - | T>C | 164 | 19524 | 19.07 | 1.26e-05 | 1.413 |
| chr12:37898543 | rs11181073 | - | A>G | 2048 | 366711 | 19.0 | 1.308e-05 | 0.8848 |
| chr3:97680074 | rs832081 | RIOX2 | G>A | 192 | 23455 | 18.9 | 1.38e-05 | 1.376 |
| chr1:3581127 | rs875233 | TP73 | T>C | 1253 | 187167 | 18.69 | 1.535e-05 | 1.15 |
| chr5:133249555 | rs3892476 | - | C>T | 1658 | 301020 | 18.56 | 1.645e-05 | 0.8808 |
| chr2:165632797 | rs78991040 | COBLL1 | G>A | 192 | 23540 | 18.52 | 1.677e-05 | 1.372 |
| chr7:13728505 | rs6461043 | - | T>C | 577 | 113524 | 18.33 | 1.854e-05 | 0.8281 |
| chr20:6839494 | rs769385 | - | A>G | 2173 | 387751 | 18.24 | 1.949e-05 | 0.8885 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:20411332 | rs2020887 | PLA2G5 | C>T | 1998 | 3592 | 26.18 | 3.117e-07 | 1.194 |
| chr4:4360381 | rs7674400 | NSG1 | A>G | 2746 | 5112 | 22.54 | 2.056e-06 | 1.17 |
| chr10:5130667 | rs117248788 | AKR1C3 | A>C | 165 | 212 | 19.86 | 8.342e-06 | 1.592 |
| chr17:42463054 | rs76066357 | ITGA2B | G>C | 102 | 114 | 19.65 | 9.285e-06 | 1.822 |
| chr9:13730665 | rs979203 | - | A>G | 503 | 799 | 19.39 | 1.066e-05 | 1.299 |
| chr17:35900290 | rs9789065 | SYNRG | G>A | 390 | 1012 | 19.33 | 1.1e-05 | 0.7618 |
| chr4:174072292 | rs6553679 | - | T>C | 1919 | 4260 | 19.24 | 1.154e-05 | 0.86 |
| chr2:55128640 | rs17346093 | EML6 | G>C | 148 | 187 | 18.88 | 1.391e-05 | 1.615 |
| chr5:157587432 | rs11135027 | - | A>G | 2706 | 5087 | 18.44 | 1.751e-05 | 1.153 |
| chr13:40939273 | rs78217510 | - | T>C | 137 | 418 | 18.3 | 1.89e-05 | 0.6543 |
| chr17:13309377 | rs77346707 | - | C>G | 270 | 393 | 18.09 | 2.108e-05 | 1.408 |
| chr1:186510916 | rs78114044 | - | A>G | 184 | 248 | 18.05 | 2.152e-05 | 1.517 |
| chr6:145288572 | rs9497158 | - | C>T | 65 | 235 | 17.95 | 2.265e-05 | 0.5545 |
| chr14:103071103 | rs12897565 | RCOR1 | G>T | 295 | 436 | 17.87 | 2.369e-05 | 1.385 |
| chr17:35583137 | rs17574651 | ACACA | G>A | 255 | 696 | 17.78 | 2.474e-05 | 0.7292 |
| chr9:140024083 | rs1140125 | - | C>A | 1883 | 4173 | 17.6 | 2.719e-05 | 0.8649 |
| chr2:141270270 | rs2171107 | LRP1B | G>T | 1679 | 3056 | 17.43 | 2.974e-05 | 1.163 |
| chr17:35837865 | rs117936082 | TADA2A | G>A | 216 | 600 | 17.31 | 3.175e-05 | 0.7145 |
| chr5:66827194 | rs6449874 | - | G>A | 623 | 1030 | 17.29 | 3.215e-05 | 1.25 |
| chr23:109022795 | rs5943442 | - | G>A | 1197 | 1973 | 17.29 | 3.213e-05 | 1.199 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: K222 | Oesophageal obstruction | 10/20 |
| ID | Name | Top Correlation |
|---|