Statistics
| Case | Control |
|---|---|
| 5229 | 454965 |
Phenotype Definition
An abnormality 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 |
|---|---|---|---|---|---|---|---|---|
| chr7:142497810 | rs35750152 | - | T>G | 4354 | 400314 | 31.57 | 1.92e-08 | 0.8963 |
| chr2:161430847 | rs13427899 | - | C>T | 375 | 24564 | 28.51 | 9.302e-08 | 1.325 |
| chr4:140811135 | rs3733382 | MAML3 | C>T | 2821 | 222300 | 28.07 | 1.168e-07 | 1.123 |
| chr19:36495502 | rs73607766 | SYNE4 | G>A | 309 | 19869 | 26.48 | 2.658e-07 | 1.347 |
| chr23:75648551 | rs7066146 | MAGEE1 | A>C | 248 | 16416 | 25.68 | 4.037e-07 | 1.388 |
| chr14:75694241 | rs8018370 | - | T>C | 561 | 39290 | 24.63 | 6.942e-07 | 1.241 |
| chr10:125789950 | rs4929829 | CHST15 | T>C | 2849 | 264403 | 24.13 | 8.995e-07 | 0.8982 |
| chr1:206665052 | rs12059562 | IKBKE | C>T | 189 | 11522 | 22.55 | 2.045e-06 | 1.418 |
| chr10:6601948 | rs1998940 | PRKCQ | G>T | 413 | 28207 | 22.47 | 2.13e-06 | 1.27 |
| chr23:100224653 | rs7882094 | - | T>C | 598 | 45242 | 22.08 | 2.61e-06 | 1.222 |
| chr14:73029178 | rs2074647 | RGS6 | G>A | 1083 | 81276 | 21.97 | 2.77e-06 | 1.163 |
| chr10:125780759 | Affx-2679766 | CHST15 | G>C | 2862 | 265596 | 21.91 | 2.864e-06 | 0.903 |
| chr3:52068736 | rs9817697 | - | C>A | 457 | 31712 | 21.69 | 3.204e-06 | 1.251 |
| chr15:101692828 | rs7168504 | - | T>C | 518 | 36435 | 21.62 | 3.33e-06 | 1.234 |
| chr10:114925758 | rs1056877 | TCF7L2 | T>C | 198 | 12253 | 21.57 | 3.412e-06 | 1.397 |
| chr7:12317890 | rs72584561 | - | A>G | 442 | 30592 | 21.44 | 3.649e-06 | 1.253 |
| chr10:125784851 | Affx-35292745 | CHST15 | C>T | 3033 | 280091 | 21.24 | 4.047e-06 | 0.9062 |
| chr7:55024142 | rs10225118 | - | C>A | 300 | 19924 | 21.18 | 4.19e-06 | 1.311 |
| chr23:128718936 | rs2362937 | OCRL | T>C | 283 | 19668 | 21.16 | 4.228e-06 | 1.322 |
| chr14:30841107 | rs17096594 | - | G>A | 292 | 32778 | 21.14 | 4.276e-06 | 0.7611 |
| chr10:125789950 | rs4929829 | CHST15 | T>C | 2668 | 251588 | 25.37 | 4.741e-07 | 0.8924 |
| chr7:142497810 | rs35750152 | - | T>G | 4201 | 387808 | 24.89 | 6.064e-07 | 0.9047 |
| chr10:125784851 | Affx-35292745 | CHST15 | C>T | 2784 | 262350 | 24.8 | 6.355e-07 | 0.8951 |
| chr4:82476437 | rs13121858 | RASGEF1B | C>T | 4542 | 374596 | 22.78 | 1.815e-06 | 1.099 |
| chr6:41384515 | rs6924912 | - | C>T | 620 | 44753 | 22.7 | 1.896e-06 | 1.219 |
| chr10:125780759 | Affx-2679766 | CHST15 | G>C | 2647 | 249433 | 22.63 | 1.959e-06 | 0.898 |
| chr2:161430847 | rs13427899 | - | C>T | 322 | 21622 | 22.04 | 2.666e-06 | 1.306 |
| chr5:63294466 | rs115426975 | - | G>A | 269 | 17700 | 21.48 | 3.582e-06 | 1.333 |
| chr2:187784328 | rs115282170 | - | A>C | 212 | 13491 | 20.89 | 4.861e-06 | 1.375 |
| chr17:38545193 | rs13695 | TOP2A | C>T | 2923 | 235724 | 20.58 | 5.728e-06 | 1.105 |
| chr5:171124515 | rs10454967 | - | C>T | 220 | 14162 | 20.17 | 7.09e-06 | 1.36 |
| chr14:73029178 | rs2074647 | RGS6 | G>A | 990 | 75167 | 19.9 | 8.156e-06 | 1.162 |
| chr10:98135505 | rs10786284 | TLL2 | A>T | 3432 | 317350 | 19.26 | 1.141e-05 | 0.9122 |
| chr15:33873657 | rs668570 | RYR3 | T>C | 2347 | 188578 | 19.11 | 1.235e-05 | 1.109 |
| chr7:125385799 | rs76177314 | - | C>T | 141 | 17632 | 18.98 | 1.319e-05 | 0.6915 |
| chr2:161413657 | rs80082579 | - | A>G | 318 | 21719 | 18.88 | 1.393e-05 | 1.282 |
| chr11:37655212 | rs11034300 | - | T>C | 2038 | 162675 | 18.47 | 1.722e-05 | 1.113 |
| chr4:140811135 | rs3733382 | MAML3 | C>T | 2427 | 195517 | 18.2 | 1.987e-05 | 1.105 |
| chr18:49166695 | rs17666226 | - | C>T | 905 | 68597 | 18.16 | 2.034e-05 | 1.161 |
| chr17:38505824 | rs2586116 | RARA | C>G | 2900 | 235324 | 18.03 | 2.178e-05 | 1.098 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr21:42771176 | rs2301803 | MX2 | T>C | 156 | 70 | 24.06 | 9.359e-07 | 0.4962 |
| chr12:11836602 | rs2856315 | ETV6 | A>G | 843 | 265 | 23.73 | 1.111e-06 | 0.6969 |
| chr12:11801209 | rs2541137 | - | C>A | 1032 | 314 | 23.5 | 1.249e-06 | 0.7169 |
| chr2:49135725 | rs72825215 | - | G>A | 164 | 71 | 21.82 | 2.991e-06 | 0.5164 |
| chr20:59264011 | rs113686480 | - | G>A | 204 | 83 | 21.47 | 3.587e-06 | 0.5466 |
| chr12:19320243 | rs10841164 | PLEKHA5 | T>C | 1691 | 295 | 20.6 | 5.645e-06 | 1.358 |
| chr12:11818827 | rs2541125 | ETV6 | G>A | 996 | 299 | 20.57 | 5.735e-06 | 0.7278 |
| chr7:96560984 | rs4727353 | - | A>G | 602 | 196 | 20.53 | 5.87e-06 | 0.68 |
| chr21:42753064 | rs2838031 | MX2 | G>A | 159 | 68 | 20.16 | 7.128e-06 | 0.5231 |
| chr9:87848559 | rs28557339 | - | G>T | 133 | 59 | 19.36 | 1.08e-05 | 0.5051 |
| chr10:84428612 | rs11596437 | NRG3 | C>T | 343 | 122 | 19.32 | 1.103e-05 | 0.6246 |
| chr1:85153052 | rs4579775 | SSX2IP | C>T | 4468 | 897 | 19.19 | 1.183e-05 | 1.227 |
| chr3:164825006 | rs114048817 | - | C>A | 524 | 172 | 18.96 | 1.335e-05 | 0.6744 |
| chr19:6940439 | rs45524135 | ADGRE1 | G>A | 168 | 69 | 18.23 | 1.955e-05 | 0.5437 |
| chr12:11841327 | rs17745684 | ETV6 | A>G | 800 | 244 | 17.95 | 2.27e-05 | 0.7226 |
| chr2:194872183 | rs2176528 | - | C>G | 2863 | 750 | 17.84 | 2.399e-05 | 0.8121 |
| chr1:108574647 | rs11590483 | - | C>T | 332 | 117 | 17.79 | 2.465e-05 | 0.6311 |
| chr12:15344407 | rs11056396 | RERG | T>C | 1222 | 352 | 17.74 | 2.535e-05 | 0.7601 |
| chr23:141524626 | rs5954669 | - | C>T | 1004 | 354 | 17.71 | 2.567e-05 | 0.7535 |
| chr19:50820610 | rs35577331 | KCNC3 | G>C | 4830 | 1209 | 17.66 | 2.636e-05 | 0.8257 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: I272 | Other secondary pulmonary hypertension | 1/20 |
| ICD: R042 | Haemoptysis | 1/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: I151 | Hypertension secondary to other renal disorders | 0/20 |
| ICD-10: I270 | Primary pulmonary hypertension | 0/20 |
| ICD-10: J984 | Other disorders of lung | 0/20 |