Statistics
| Case | Control |
|---|---|
| 11254 | 448940 |
Phenotype Definition
An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. [HPO:probinson]
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 | 305 | 27221 | 199.5 | 2.67e-45 | 0.4504 |
| chr15:48392165 | rs1834640 | - | A>G | 406 | 31218 | 171.2 | 4.074e-39 | 0.5231 |
| chr23:71628912 | rs3012642 | AL133500.1 | A>G | 242 | 22482 | 148.7 | 3.405e-34 | 0.461 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 207 | 19170 | 147.9 | 4.879e-34 | 0.4361 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 936 | 56056 | 144.7 | 2.477e-33 | 0.6689 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 1144 | 65914 | 144.3 | 3.123e-33 | 0.694 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 250 | 21120 | 139.4 | 3.572e-32 | 0.4778 |
| chr2:66725070 | rs12995572 | MEIS1 | G>C | 367 | 26784 | 128.6 | 8.465e-30 | 0.5532 |
| chr1:173579034 | rs12065033 | AL139142.2 | C>T | 154 | 15187 | 128.4 | 9.388e-30 | 0.4103 |
| chr5:147671850 | rs7724380 | - | G>A | 239 | 19944 | 128.4 | 9.191e-30 | 0.4842 |
| chr2:171380643 | rs34020565 | MYO3B | T>G | 328 | 24531 | 124.8 | 5.666e-29 | 0.5403 |
| chr5:147863034 | rs9325101 | HTR4 | A>G | 182 | 16558 | 123.9 | 9.023e-29 | 0.4446 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 210 | 17935 | 120.4 | 5.082e-28 | 0.4734 |
| chr9:127267689 | rs3814134 | NR5A1 | A>G | 417 | 28789 | 119.4 | 8.594e-28 | 0.5843 |
| chr17:29298304 | rs7225888 | RNF135 | C>G | 243 | 19692 | 119.4 | 8.565e-28 | 0.4991 |
| chr17:29350769 | rs8073072 | - | T>G | 351 | 25355 | 118.6 | 1.3e-27 | 0.559 |
| chr5:147666044 | rs7707813 | - | T>C | 223 | 18540 | 118.4 | 1.435e-27 | 0.4863 |
| chr17:29290106 | rs55861543 | - | C>T | 259 | 20500 | 118.3 | 1.503e-27 | 0.5111 |
| chr2:226686177 | rs7581591 | - | T>C | 244 | 19591 | 116.1 | 4.429e-27 | 0.5043 |
| chr9:140957557 | rs11137360 | CACNA1B | A>G | 266 | 20740 | 116.1 | 4.585e-27 | 0.5185 |
| chr15:78898723 | rs12914385 | CHRNA3 | C>T | 9211 | 341642 | 76.92 | 1.782e-18 | 1.128 |
| chr15:78911181 | rs8040868 | CHRNA3 | T>C | 9423 | 351323 | 68.79 | 1.093e-16 | 1.12 |
| chr15:78882925 | rs16969968 | CHRNA5 | G>A | 7989 | 295955 | 63.98 | 1.254e-15 | 1.119 |
| chr15:78894339 | rs1051730 | CHRNA3 | G>A | 7983 | 295597 | 63.9 | 1.307e-15 | 1.119 |
| chr15:78878541 | rs951266 | CHRNA5 | G>A | 7965 | 295107 | 63.57 | 1.547e-15 | 1.119 |
| chr15:78911672 | rs4243084 | CHRNA3 | G>C | 8106 | 300767 | 63.52 | 1.586e-15 | 1.119 |
| chr15:78873993 | rs7180002 | CHRNA5 | A>T | 7966 | 295019 | 63.29 | 1.784e-15 | 1.119 |
| chr15:78806023 | rs8034191 | HYKK | T>C | 8077 | 299452 | 62.86 | 2.22e-15 | 1.118 |
| chr15:78802869 | rs9788721 | HYKK | T>C | 8199 | 304378 | 62.86 | 2.22e-15 | 1.118 |
| chr15:78814046 | rs10519203 | HYKK | A>G | 8106 | 300842 | 61.84 | 3.718e-15 | 1.117 |
| chr15:78867482 | rs17486278 | CHRNA5 | A>C | 7984 | 296237 | 61.29 | 4.936e-15 | 1.117 |
| chr15:78826180 | rs931794 | HYKK | A>G | 8089 | 300600 | 61.09 | 5.441e-15 | 1.116 |
| chr15:78868636 | rs72740964 | CHRNA5 | G>A | 7874 | 291992 | 61.08 | 5.477e-15 | 1.117 |
| chr15:78857939 | rs55853698 | CHRNA5 | T>G | 8060 | 299383 | 59.92 | 9.868e-15 | 1.115 |
| chr15:78857986 | rs55781567 | CHRNA5 | C>G | 8049 | 299326 | 59.11 | 1.492e-14 | 1.114 |
| chr15:78896129 | rs1317286 | CHRNA3 | A>G | 8027 | 298256 | 59.08 | 1.516e-14 | 1.114 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 5334 | 193581 | 55.89 | 7.675e-14 | 1.126 |
| chr15:78789488 | rs13180 | IREB2 | T>C | 8103 | 345157 | 55.71 | 8.386e-14 | 0.9004 |
| chr15:78774271 | rs8042238 | IREB2 | T>C | 8100 | 345061 | 55.56 | 9.057e-14 | 0.9005 |
| chr15:78754000 | rs1964678 | IREB2 | G>A | 8058 | 343395 | 55.3 | 1.034e-13 | 0.9006 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:78806023 | rs8034191 | HYKK | T>C | 8077 | 2546 | 28.89 | 7.653e-08 | 1.161 |
| chr15:78814046 | rs10519203 | HYKK | A>G | 8106 | 2562 | 28.06 | 1.176e-07 | 1.159 |
| chr15:78857939 | rs55853698 | CHRNA5 | T>G | 8060 | 2548 | 27.78 | 1.358e-07 | 1.158 |
| chr15:78857986 | rs55781567 | CHRNA5 | C>G | 8049 | 2549 | 27.14 | 1.888e-07 | 1.156 |
| chr15:78826180 | rs931794 | HYKK | A>G | 8089 | 2563 | 26.41 | 2.764e-07 | 1.154 |
| chr26:4104 | Affx-89025723 | - | A>G | 8 | 18 | 25.62 | 4.151e-07 | 0.1541 |
| chr15:78868636 | rs72740964 | CHRNA5 | G>A | 7874 | 2488 | 25.41 | 4.638e-07 | 1.152 |
| chr26:1018 | Affx-89025772 | - | G>A | 16 | 24 | 24.47 | 7.565e-07 | 0.2309 |
| chr15:78802869 | rs9788721 | HYKK | T>C | 8199 | 2614 | 24.16 | 8.861e-07 | 1.146 |
| chr15:78873993 | rs7180002 | CHRNA5 | A>T | 7966 | 2529 | 23.89 | 1.023e-06 | 1.146 |
| chr15:78878541 | rs951266 | CHRNA5 | G>A | 7965 | 2534 | 23.36 | 1.346e-06 | 1.144 |
| chr3:44196660 | rs4682716 | - | A>C | 7597 | 2874 | 22.97 | 1.649e-06 | 0.877 |
| chr8:129586776 | rs16903111 | - | T>C | 2608 | 1069 | 22.88 | 1.725e-06 | 0.8302 |
| chr15:78882925 | rs16969968 | CHRNA5 | G>A | 7989 | 2547 | 22.8 | 1.802e-06 | 1.142 |
| chr15:78867482 | rs17486278 | CHRNA5 | A>C | 7984 | 2546 | 22.61 | 1.984e-06 | 1.142 |
| chr6:37722549 | rs6922267 | - | T>G | 5123 | 1988 | 22.1 | 2.594e-06 | 0.8667 |
| chr26:769 | Affx-34462230 | - | G>A | 11 | 19 | 22.09 | 2.595e-06 | 0.2007 |
| chr2:167720786 | rs6705375 | - | A>C | 5833 | 2240 | 22.0 | 2.721e-06 | 0.8715 |
| chr9:4602498 | rs77773287 | SPATA6L | G>A | 675 | 157 | 21.62 | 3.324e-06 | 1.513 |
| chr15:78789488 | rs13180 | IREB2 | T>C | 8103 | 3049 | 21.48 | 3.574e-06 | 0.8823 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J448 | Other specified chronic obstructive pulmonary disease | 1/20 |
| ICD: J449 | Chronic obstructive pulmonary disease, unspecified | 20/20 |
| ID | Name | Top Correlation |
|---|