Statistics
| Case | Control |
|---|---|
| 15170 | 445024 |
Phenotype Definition
An abnormality of the outline, configuration, or contour of the mouth. [DDD:jhurst]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 593 | 26933 | 109.4 | 1.322e-25 | 0.6473 |
| chr15:48392165 | rs1834640 | - | A>G | 727 | 30897 | 95.21 | 1.712e-22 | 0.6919 |
| chr6:170242949 | rs9396958 | - | T>C | 316 | 15798 | 87.01 | 1.081e-20 | 0.5906 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 7183 | 194022 | 76.74 | 1.953e-18 | 1.127 |
| chr6:421281 | rs62389423 | - | G>A | 5876 | 158160 | 67.08 | 2.606e-16 | 1.128 |
| chr2:135837906 | rs7570971 | RAB3GAP1 | C>A | 9231 | 294342 | 66.36 | 3.757e-16 | 0.9028 |
| chr18:4157690 | rs6506185 | DLGAP1 | T>C | 252 | 12458 | 66.19 | 4.102e-16 | 0.5981 |
| chr5:147863034 | rs9325101 | HTR4 | A>G | 360 | 16380 | 66.08 | 4.332e-16 | 0.649 |
| chr15:78898723 | rs12914385 | CHRNA3 | C>T | 12574 | 352384 | 65.71 | 5.232e-16 | 1.099 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 1523 | 55469 | 65.48 | 5.873e-16 | 0.8065 |
| chr2:136407479 | rs1446585 | R3HDM1 | A>G | 8043 | 258355 | 65.23 | 6.662e-16 | 0.8996 |
| chr6:144665357 | rs6917261 | UTRN | T>C | 265 | 12850 | 64.37 | 1.033e-15 | 0.6096 |
| chr2:135911422 | Affx-17900027 | RAB3GAP1 | T>C | 7225 | 233381 | 64.3 | 1.068e-15 | 0.8967 |
| chr15:29223282 | rs8026324 | APBA2 | T>A | 1075 | 40601 | 63.37 | 1.709e-15 | 0.7791 |
| chr5:147671850 | rs7724380 | - | G>A | 459 | 19724 | 63.22 | 1.852e-15 | 0.6866 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 437 | 18940 | 62.94 | 2.136e-15 | 0.681 |
| chr2:171380643 | rs34020565 | MYO3B | T>G | 591 | 24268 | 62.29 | 2.964e-15 | 0.7188 |
| chr16:7465748 | rs4786166 | RBFOX1 | C>T | 395 | 17399 | 61.8 | 3.8e-15 | 0.6704 |
| chr23:71628912 | rs3012642 | AL133500.1 | A>G | 491 | 22233 | 61.5 | 4.438e-15 | 0.6978 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 495 | 20875 | 61.37 | 4.73e-15 | 0.6996 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 7098 | 191817 | 56.88 | 4.624e-14 | 1.11 |
| chr15:78898723 | rs12914385 | CHRNA3 | C>T | 12190 | 338663 | 55.87 | 7.751e-14 | 1.093 |
| chr15:78911181 | rs8040868 | CHRNA3 | T>C | 12494 | 348252 | 51.7 | 6.477e-13 | 1.089 |
| chr6:421281 | rs62389423 | - | G>A | 5795 | 156070 | 50.03 | 1.515e-12 | 1.111 |
| chr18:77563334 | rs11665567 | - | G>A | 6816 | 185690 | 45.42 | 1.591e-11 | 1.099 |
| chr15:78911672 | rs4243084 | CHRNA3 | G>C | 10710 | 298163 | 42.95 | 5.626e-11 | 1.083 |
| chr15:78894339 | rs1051730 | CHRNA3 | G>A | 10537 | 293043 | 42.69 | 6.419e-11 | 1.083 |
| chr15:78882925 | rs16969968 | CHRNA5 | G>A | 10536 | 293408 | 41.32 | 1.29e-10 | 1.082 |
| chr15:78878541 | rs951266 | CHRNA5 | G>A | 10499 | 292573 | 40.49 | 1.976e-10 | 1.081 |
| chr15:78896129 | rs1317286 | CHRNA3 | A>G | 10608 | 295675 | 40.07 | 2.455e-10 | 1.081 |
| chr15:78873993 | rs7180002 | CHRNA5 | A>T | 10495 | 292490 | 39.82 | 2.786e-10 | 1.081 |
| chr15:78802869 | rs9788721 | HYKK | T>C | 10813 | 301764 | 39.23 | 3.764e-10 | 1.079 |
| chr15:78867482 | rs17486278 | CHRNA5 | A>C | 10530 | 293691 | 38.97 | 4.308e-10 | 1.08 |
| chr4:145480780 | rs1828591 | AC098588.2 | A>G | 11441 | 351342 | 38.18 | 6.444e-10 | 0.9283 |
| chr4:145474473 | rs1489759 | AC098588.2 | A>G | 11401 | 350123 | 38.11 | 6.691e-10 | 0.9282 |
| chr4:145506456 | rs13141641 | AC098588.2 | T>C | 11399 | 349909 | 37.08 | 1.133e-09 | 0.9292 |
| chr4:145479761 | rs6537293 | AC098588.2 | A>G | 11426 | 350643 | 36.82 | 1.296e-09 | 0.9295 |
| chr15:78868636 | rs72740964 | CHRNA5 | G>A | 10362 | 289504 | 36.66 | 1.404e-09 | 1.078 |
| chr4:145486389 | rs13118928 | AC098588.2 | A>G | 11422 | 350510 | 36.33 | 1.67e-09 | 0.9299 |
| chr15:78826180 | rs931794 | HYKK | A>G | 10652 | 298037 | 35.97 | 2e-09 | 1.076 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:78898723 | rs12914385 | CHRNA3 | C>T | 12190 | 62809 | 54.89 | 1.272e-13 | 1.099 |
| chr15:78911181 | rs8040868 | CHRNA3 | T>C | 12494 | 64574 | 51.57 | 6.923e-13 | 1.096 |
| chr15:78911672 | rs4243084 | CHRNA3 | G>C | 10710 | 55364 | 40.62 | 1.851e-10 | 1.087 |
| chr15:78894339 | rs1051730 | CHRNA3 | G>A | 10537 | 54424 | 40.12 | 2.389e-10 | 1.087 |
| chr15:78882925 | rs16969968 | CHRNA5 | G>A | 10536 | 54463 | 39.44 | 3.389e-10 | 1.086 |
| chr15:78896129 | rs1317286 | CHRNA3 | A>G | 10608 | 54899 | 38.4 | 5.759e-10 | 1.085 |
| chr15:78878541 | rs951266 | CHRNA5 | G>A | 10499 | 54360 | 37.82 | 7.764e-10 | 1.084 |
| chr15:78873993 | rs7180002 | CHRNA5 | A>T | 10495 | 54333 | 37.59 | 8.723e-10 | 1.084 |
| chr15:78867482 | rs17486278 | CHRNA5 | A>C | 10530 | 54539 | 36.82 | 1.296e-09 | 1.083 |
| chr15:78802869 | rs9788721 | HYKK | T>C | 10813 | 56074 | 36.34 | 1.655e-09 | 1.082 |
| chr15:78868636 | rs72740964 | CHRNA5 | G>A | 10362 | 53760 | 35.38 | 2.717e-09 | 1.082 |
| chr15:78774271 | rs8042238 | IREB2 | T>C | 11143 | 63787 | 34.44 | 4.4e-09 | 0.9269 |
| chr15:78789488 | rs13180 | IREB2 | T>C | 11152 | 63800 | 33.92 | 5.742e-09 | 0.9274 |
| chr15:78754000 | rs1964678 | IREB2 | G>A | 11090 | 63456 | 33.79 | 6.129e-09 | 0.9275 |
| chr15:78826180 | rs931794 | HYKK | A>G | 10652 | 55398 | 33.25 | 8.112e-09 | 1.079 |
| chr15:78814046 | rs10519203 | HYKK | A>G | 10668 | 55446 | 32.77 | 1.04e-08 | 1.078 |
| chr15:78806023 | rs8034191 | HYKK | T>C | 10623 | 55193 | 32.75 | 1.046e-08 | 1.078 |
| chr15:78857939 | rs55853698 | CHRNA5 | T>G | 10608 | 55159 | 31.48 | 2.014e-08 | 1.076 |
| chr15:78857986 | rs55781567 | CHRNA5 | C>G | 10598 | 55174 | 30.6 | 3.17e-08 | 1.075 |
| chr4:145474473 | rs1489759 | AC098588.2 | A>G | 11401 | 64949 | 28.15 | 1.124e-07 | 0.9338 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J448 | Other specified chronic obstructive pulmonary disease | 2/20 |
| ICD: J449 | Chronic obstructive pulmonary disease, unspecified | 9/20 |
| ICD: R065 | Mouth breathing | 2/20 |