Statistics
| Case | Control |
|---|---|
| 46731 | 413463 |
Phenotype Definition
A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. []
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr6:396321 | rs12203592 | IRF4 | C>T | 21350 | 179855 | 62.65 | 2.467e-15 | 1.067 |
| chr6:32602396 | rs9272226 | HLA-DQA1 | T>C | 37297 | 322042 | 36.36 | 1.64e-09 | 1.043 |
| chr6:32577973 | rs532965 | - | T>G | 18962 | 161575 | 32.8 | 1.022e-08 | 1.05 |
| chr6:32583357 | rs6931277 | - | A>T | 18534 | 158158 | 32.65 | 1.105e-08 | 1.051 |
| chr6:32582650 | rs3104413 | - | C>G | 18794 | 160275 | 31.51 | 1.986e-08 | 1.049 |
| chr6:32282854 | rs6910071 | TSBP1 | A>G | 22341 | 191259 | 31.38 | 2.125e-08 | 1.046 |
| chr6:32303848 | rs28361060 | TSBP1 | G>A | 22356 | 191504 | 30.43 | 3.459e-08 | 1.045 |
| chr6:32333341 | rs9268362 | TSBP1 | A>G | 22408 | 192003 | 30.25 | 3.794e-08 | 1.045 |
| chr6:421281 | rs62389423 | - | G>A | 17241 | 146795 | 30.23 | 3.844e-08 | 1.05 |
| chr6:32257284 | rs9268145 | TSBP1 | T>G | 22321 | 191307 | 29.88 | 4.591e-08 | 1.045 |
| chr6:25918225 | rs80215559 | SLC17A2 | T>C | 7555 | 62829 | 29.75 | 4.915e-08 | 1.072 |
| chr13:58278527 | rs7338138 | PCDH17 | G>A | 18000 | 153604 | 29.57 | 5.406e-08 | 1.049 |
| chr6:25842951 | rs1408272 | SLC17A3 | T>G | 7782 | 64897 | 28.17 | 1.108e-07 | 1.069 |
| chr6:32192331 | rs3096702 | - | G>A | 38817 | 336532 | 27.99 | 1.22e-07 | 1.037 |
| chr6:32220577 | rs12525893 | - | C>T | 17941 | 165108 | 27.88 | 1.294e-07 | 0.9551 |
| chr6:32212233 | rs9267948 | - | A>G | 40358 | 350212 | 27.75 | 1.379e-07 | 1.037 |
| chr6:32218681 | rs10223710 | - | A>G | 18490 | 170029 | 27.44 | 1.622e-07 | 0.956 |
| chr6:32667850 | rs9275356 | - | C>G | 10437 | 87899 | 27.42 | 1.635e-07 | 1.059 |
| chr6:32607376 | rs34250758 | HLA-DQA1 | G>A | 19891 | 170372 | 27.38 | 1.672e-07 | 1.045 |
| chr4:151340224 | rs116557628 | LRBA | T>C | 2104 | 16541 | 27.31 | 1.731e-07 | 1.13 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 21115 | 177800 | 58.38 | 2.158e-14 | 1.065 |
| chr6:32602396 | rs9272226 | HLA-DQA1 | T>C | 35251 | 303961 | 32.44 | 1.232e-08 | 1.041 |
| chr6:32583357 | rs6931277 | - | A>T | 17947 | 153009 | 30.12 | 4.058e-08 | 1.05 |
| chr6:32577973 | rs532965 | - | T>G | 18351 | 156316 | 29.23 | 6.441e-08 | 1.048 |
| chr6:32582650 | rs3104413 | - | C>G | 18188 | 155006 | 28.82 | 7.958e-08 | 1.048 |
| chr6:32259923 | rs17422727 | TSBP1 | C>G | 14947 | 137901 | 28.45 | 9.605e-08 | 0.9511 |
| chr6:32220577 | rs12525893 | - | C>T | 16892 | 155366 | 28.36 | 1.008e-07 | 0.9534 |
| chr6:25918225 | rs80215559 | SLC17A2 | T>C | 7482 | 62213 | 27.85 | 1.312e-07 | 1.07 |
| chr6:32218681 | rs10223710 | - | A>G | 17296 | 158954 | 27.65 | 1.456e-07 | 0.9544 |
| chr6:421281 | rs62389423 | - | G>A | 17011 | 144854 | 26.97 | 2.066e-07 | 1.048 |
| chr4:151340224 | rs116557628 | LRBA | T>C | 2076 | 16292 | 26.81 | 2.247e-07 | 1.13 |
| chr6:32218989 | rs9296015 | - | G>A | 17304 | 158930 | 26.77 | 2.295e-07 | 0.9551 |
| chr6:25842951 | rs1408272 | SLC17A3 | T>G | 7700 | 64184 | 26.52 | 2.611e-07 | 1.067 |
| chr6:32667850 | rs9275356 | - | C>G | 10059 | 84554 | 26.3 | 2.919e-07 | 1.059 |
| chr6:32681277 | rs2858331 | - | A>G | 33909 | 307176 | 25.99 | 3.438e-07 | 0.9641 |
| chr6:32211317 | rs411326 | - | C>T | 24634 | 224337 | 25.22 | 5.127e-07 | 0.9615 |
| chr6:32192331 | rs3096702 | - | G>A | 37661 | 326260 | 24.65 | 6.892e-07 | 1.036 |
| chr6:32607376 | rs34250758 | HLA-DQA1 | G>A | 19176 | 164114 | 24.6 | 7.057e-07 | 1.043 |
| chr6:32654714 | rs9275184 | - | T>C | 9943 | 83673 | 24.58 | 7.126e-07 | 1.057 |
| chr6:32282854 | rs6910071 | TSBP1 | A>G | 21822 | 187158 | 24.48 | 7.504e-07 | 1.041 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:7142159 | rs117190063 | KDM4C | T>C | 1016 | 23 | 29.05 | 7.043e-08 | 0.3332 |
| chr10:50387056 | rs61848459 | TMEM273 | G>A | 9094 | 108 | 22.34 | 2.288e-06 | 0.6118 |
| chr7:5126290 | rs113450107 | - | G>A | 1687 | 30 | 22.32 | 2.311e-06 | 0.4224 |
| chr7:151097841 | rs59658645 | WDR86 | C>T | 1460 | 27 | 22.09 | 2.606e-06 | 0.4067 |
| chr2:206629229 | rs78289070 | NRP2 | C>T | 1968 | 33 | 21.2 | 4.147e-06 | 0.4469 |
| chr4:180688000 | rs6844851 | - | C>T | 31458 | 300 | 20.87 | 4.915e-06 | 0.7077 |
| chr2:30038646 | rs116115678 | ALK | G>T | 4326 | 59 | 20.81 | 5.079e-06 | 0.541 |
| chr8:96513812 | rs72667909 | - | A>G | 1496 | 27 | 20.62 | 5.596e-06 | 0.4185 |
| chr21:47695220 | rs2839190 | MCM3AP | A>G | 1056 | 21 | 20.28 | 6.683e-06 | 0.3795 |
| chr11:103006557 | rs77738279 | DYNC2H1 | G>A | 4287 | 58 | 20.16 | 7.109e-06 | 0.5434 |
| chr2:149488888 | rs72864208 | EPC2 | C>T | 1063 | 21 | 19.87 | 8.286e-06 | 0.383 |
| chr14:44336457 | rs118037970 | - | C>T | 1378 | 25 | 19.86 | 8.334e-06 | 0.4121 |
| chr2:217029119 | rs41301718 | XRCC5 | G>A | 1457 | 26 | 19.53 | 9.897e-06 | 0.4216 |
| chr7:88754257 | rs10261562 | ZNF804B | C>T | 20745 | 209 | 19.34 | 1.094e-05 | 0.697 |
| chr14:40931192 | rs117209097 | - | G>A | 2127 | 34 | 19.25 | 1.145e-05 | 0.4682 |
| chr12:106636097 | rs12426351 | CKAP4 | G>T | 795 | 17 | 19.01 | 1.302e-05 | 0.3553 |
| chr2:88527647 | rs12473740 | - | A>G | 10177 | 115 | 18.82 | 1.439e-05 | 0.6439 |
| chr4:59252057 | rs76536562 | - | G>A | 7342 | 88 | 18.79 | 1.462e-05 | 0.6119 |
| chr4:94181820 | rs77414603 | GRID2 | G>C | 1406 | 25 | 18.7 | 1.533e-05 | 0.4227 |
| chr10:129504152 | rs118084870 | - | T>G | 1021 | 20 | 18.65 | 1.568e-05 | 0.3858 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C441 | Skin of eyelid, including canthus | 2/20 |
| ICD: M059 | Seropositive rheumatoid arthritis, unspecified | 8/20 |
| ICD: Y838 | Other surgical procedures | 2/20 |