Statistics
| Case | Control |
|---|---|
| 1349 | 458845 |
Phenotype Definition
Underdevelopment of the pulmonary artery. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:12751429 | rs72644525 | - | C>T | 126 | 27655 | 26.33 | 2.873e-07 | 1.591 |
| chr20:57768655 | rs61743779 | ZNF831 | G>A | 57 | 10312 | 24.26 | 8.418e-07 | 1.914 |
| chr14:31960514 | rs72674803 | NUBPL | C>A | 120 | 26554 | 24.15 | 8.912e-07 | 1.577 |
| chr9:27341338 | rs7041639 | MOB3B | A>G | 360 | 96888 | 23.71 | 1.121e-06 | 1.316 |
| chr5:96702380 | rs11135509 | - | T>C | 1502 | 471362 | 23.34 | 1.357e-06 | 1.2 |
| chr7:41625519 | rs55739904 | - | C>T | 103 | 22187 | 23.15 | 1.496e-06 | 1.615 |
| chr10:125756780 | rs4929806 | - | G>A | 1110 | 339505 | 22.24 | 2.403e-06 | 1.199 |
| chr5:96565280 | rs17630655 | - | A>G | 1436 | 450023 | 21.21 | 4.112e-06 | 1.189 |
| chr5:96578141 | rs13162261 | - | A>G | 1472 | 463479 | 20.93 | 4.764e-06 | 1.189 |
| chr13:77116983 | rs116949149 | - | G>A | 151 | 36051 | 20.76 | 5.208e-06 | 1.462 |
| chr5:96623059 | rs2697550 | - | A>C | 1439 | 451506 | 20.66 | 5.472e-06 | 1.186 |
| chr14:102857796 | rs8008097 | TECPR2 | G>A | 1174 | 362897 | 20.46 | 6.077e-06 | 1.188 |
| chr6:5104459 | rs17139428 | LYRM4 | A>G | 54 | 10122 | 20.44 | 6.143e-06 | 1.846 |
| chr6:114736654 | rs72958237 | - | C>T | 70 | 14157 | 20.37 | 6.386e-06 | 1.718 |
| chr5:166812293 | rs72829329 | TENM2 | G>C | 91 | 19676 | 20.0 | 7.755e-06 | 1.605 |
| chr1:82869627 | rs12144783 | - | G>A | 437 | 122714 | 19.89 | 8.21e-06 | 1.261 |
| chr5:96611829 | rs1845658 | - | G>T | 1430 | 450443 | 19.65 | 9.289e-06 | 1.181 |
| chr10:13207277 | rs10906317 | MCM10 | G>C | 1123 | 346836 | 19.45 | 1.034e-05 | 1.185 |
| chr2:226731955 | rs112175261 | - | G>A | 281 | 75209 | 18.76 | 1.48e-05 | 1.312 |
| chr20:17933368 | Affx-52334567 | SNX5 | T>TG | 244 | 108600 | 18.7 | 1.531e-05 | 0.7491 |
| chr9:27341338 | rs7041639 | MOB3B | A>G | 332 | 86064 | 27.23 | 1.802e-07 | 1.357 |
| chr7:41436977 | rs58974745 | - | C>T | 106 | 22462 | 24.75 | 6.527e-07 | 1.631 |
| chr1:12751429 | rs72644525 | - | C>T | 122 | 26838 | 24.3 | 8.239e-07 | 1.574 |
| chr20:57768655 | rs61743779 | ZNF831 | G>A | 56 | 10083 | 23.55 | 1.215e-06 | 1.908 |
| chr1:82869627 | rs12144783 | - | G>A | 430 | 117786 | 22.97 | 1.643e-06 | 1.287 |
| chr7:41625519 | rs55739904 | - | C>T | 102 | 21850 | 22.64 | 1.949e-06 | 1.611 |
| chr5:96702380 | rs11135509 | - | T>C | 1418 | 440722 | 22.47 | 2.13e-06 | 1.201 |
| chr5:96623059 | rs2697550 | - | A>C | 1350 | 417216 | 22.04 | 2.675e-06 | 1.198 |
| chr14:31960514 | rs72674803 | NUBPL | C>A | 115 | 25674 | 21.35 | 3.835e-06 | 1.549 |
| chr5:96578141 | rs13162261 | - | A>G | 1379 | 428884 | 21.25 | 4.037e-06 | 1.196 |
| chr6:5104459 | rs17139428 | LYRM4 | A>G | 54 | 9937 | 21.14 | 4.258e-06 | 1.866 |
| chr5:96565280 | rs17630655 | - | A>G | 1341 | 415120 | 21.11 | 4.339e-06 | 1.194 |
| chr5:96611829 | rs1845658 | - | G>T | 1339 | 415547 | 20.87 | 4.92e-06 | 1.193 |
| chr6:114736654 | rs72958237 | - | C>T | 70 | 14034 | 20.4 | 6.282e-06 | 1.719 |
| chr14:102857796 | rs8008097 | TECPR2 | G>A | 1132 | 346702 | 20.18 | 7.065e-06 | 1.192 |
| chr1:82847334 | rs3901465 | - | T>G | 357 | 97522 | 19.35 | 1.088e-05 | 1.284 |
| chr14:78904267 | rs1861081 | NRXN3 | A>G | 390 | 107693 | 19.3 | 1.12e-05 | 1.272 |
| chr6:6904100 | rs72653710 | - | C>T | 153 | 36885 | 19.04 | 1.28e-05 | 1.436 |
| chr10:125756780 | rs4929806 | - | G>A | 1073 | 327938 | 18.98 | 1.323e-05 | 1.187 |
| chr17:48124582 | rs16948609 | - | T>G | 454 | 128002 | 18.88 | 1.394e-05 | 1.251 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:12751429 | rs72644525 | - | C>T | 122 | 128 | 23.99 | 9.692e-07 | 1.862 |
| chr7:31657776 | rs79433840 | ITPRID1 | T>G | 88 | 291 | 21.68 | 3.227e-06 | 0.5652 |
| chr11:77816538 | rs4945250 | ALG8 | T>C | 81 | 272 | 21.1 | 4.361e-06 | 0.5574 |
| chr16:5596301 | rs7196311 | RBFOX1 | C>A | 64 | 55 | 20.28 | 6.675e-06 | 2.256 |
| chr21:33262180 | rs28360607 | HUNK | A>G | 362 | 519 | 19.97 | 7.855e-06 | 1.385 |
| chr14:78904267 | rs1861081 | NRXN3 | A>G | 390 | 569 | 19.53 | 9.902e-06 | 1.365 |
| chr20:57483539 | rs117346213 | GNAS | A>G | 107 | 113 | 19.35 | 1.091e-05 | 1.813 |
| chr5:51566705 | rs4470721 | - | G>C | 107 | 327 | 18.86 | 1.408e-05 | 0.6122 |
| chr20:57768655 | rs61743779 | ZNF831 | G>A | 56 | 47 | 18.56 | 1.647e-05 | 2.305 |
| chr17:3435691 | rs448402 | TRPV3 | T>C | 996 | 2166 | 18.48 | 1.719e-05 | 0.8105 |
| chr19:54813189 | rs35915840 | - | G>T | 412 | 609 | 18.47 | 1.723e-05 | 1.343 |
| chr8:11612315 | rs13264774 | GATA4 | C>T | 374 | 910 | 18.36 | 1.831e-05 | 0.7521 |
| chr3:62210309 | rs73098582 | PTPRG | G>C | 17 | 94 | 18.05 | 2.147e-05 | 0.3418 |
| chr2:20688519 | rs13021401 | - | C>T | 632 | 1434 | 17.71 | 2.579e-05 | 0.7933 |
| chr10:132066103 | rs56170560 | - | G>A | 27 | 122 | 17.65 | 2.661e-05 | 0.418 |
| chr2:204624096 | rs115092659 | - | T>C | 61 | 209 | 17.36 | 3.087e-05 | 0.5454 |
| chr7:37465175 | rs56372571 | ELMO1 | G>A | 115 | 131 | 17.28 | 3.233e-05 | 1.707 |
| chr8:10465748 | rs11783478 | RP1L1 | C>T | 1357 | 2315 | 17.24 | 3.298e-05 | 1.221 |
| chr19:17651636 | rs117164196 | NIBAN3 | G>A | 57 | 50 | 17.2 | 3.373e-05 | 2.203 |
| chr5:141862272 | rs7720312 | - | G>T | 146 | 178 | 17.16 | 3.439e-05 | 1.599 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J984 | Other disorders of lung | 19/20 |
| ID | Name | Top Correlation |
|---|