Statistics
| Case | Control |
|---|---|
| 47090 | 413104 |
Phenotype Definition
An 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 | 21510 | 179695 | 62.69 | 2.418e-15 | 1.067 |
| chr6:32602396 | rs9272226 | HLA-DQA1 | T>C | 37537 | 321802 | 33.18 | 8.406e-09 | 1.041 |
| chr6:32577973 | rs532965 | - | T>G | 19086 | 161451 | 31.02 | 2.553e-08 | 1.049 |
| chr13:58278527 | rs7338138 | PCDH17 | G>A | 18149 | 153455 | 30.95 | 2.647e-08 | 1.05 |
| chr6:32583357 | rs6931277 | - | A>T | 18655 | 158037 | 30.85 | 2.794e-08 | 1.049 |
| chr6:421281 | rs62389423 | - | G>A | 17370 | 146666 | 30.2 | 3.891e-08 | 1.05 |
| chr6:32582650 | rs3104413 | - | C>G | 18915 | 160154 | 29.73 | 4.973e-08 | 1.048 |
| chr6:32282854 | rs6910071 | TSBP1 | A>G | 22483 | 191117 | 29.11 | 6.836e-08 | 1.044 |
| chr6:25918225 | rs80215559 | SLC17A2 | T>C | 7606 | 62778 | 29.07 | 6.988e-08 | 1.07 |
| chr6:32303848 | rs28361060 | TSBP1 | G>A | 22498 | 191362 | 28.15 | 1.123e-07 | 1.043 |
| chr6:32333341 | rs9268362 | TSBP1 | A>G | 22551 | 191860 | 28.02 | 1.201e-07 | 1.043 |
| chr6:32257284 | rs9268145 | TSBP1 | T>G | 22463 | 191165 | 27.66 | 1.444e-07 | 1.043 |
| chr6:25842951 | rs1408272 | SLC17A3 | T>G | 7835 | 64844 | 27.54 | 1.537e-07 | 1.068 |
| chr4:151340224 | rs116557628 | LRBA | T>C | 2119 | 16526 | 27.26 | 1.778e-07 | 1.129 |
| chr6:32220577 | rs12525893 | - | C>T | 18098 | 164951 | 26.34 | 2.863e-07 | 0.9565 |
| chr13:58277306 | rs7326551 | PCDH17 | A>C | 24381 | 208008 | 25.9 | 3.603e-07 | 1.04 |
| chr6:32192331 | rs3096702 | - | G>A | 39081 | 336268 | 25.88 | 3.637e-07 | 1.035 |
| chr6:32218681 | rs10223710 | - | A>G | 18652 | 169867 | 25.83 | 3.72e-07 | 0.9574 |
| chr6:32607376 | rs34250758 | HLA-DQA1 | G>A | 20021 | 170242 | 25.67 | 4.057e-07 | 1.043 |
| chr6:32681277 | rs2858331 | - | A>G | 36859 | 331342 | 25.43 | 4.596e-07 | 0.9657 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 21275 | 177640 | 58.53 | 2.003e-14 | 1.065 |
| chr6:32602396 | rs9272226 | HLA-DQA1 | T>C | 35479 | 303733 | 29.5 | 5.582e-08 | 1.039 |
| chr6:32583357 | rs6931277 | - | A>T | 18063 | 152893 | 28.17 | 1.109e-07 | 1.048 |
| chr6:32577973 | rs532965 | - | T>G | 18469 | 156198 | 27.3 | 1.739e-07 | 1.046 |
| chr6:32259923 | rs17422727 | TSBP1 | C>G | 15077 | 137771 | 27.23 | 1.81e-07 | 0.9523 |
| chr6:25918225 | rs80215559 | SLC17A2 | T>C | 7533 | 62162 | 27.21 | 1.826e-07 | 1.069 |
| chr6:32220577 | rs12525893 | - | C>T | 17038 | 155220 | 27.1 | 1.93e-07 | 0.9546 |
| chr6:421281 | rs62389423 | - | G>A | 17140 | 144725 | 27.03 | 2.006e-07 | 1.048 |
| chr6:32582650 | rs3104413 | - | C>G | 18302 | 154892 | 26.79 | 2.272e-07 | 1.046 |
| chr4:151340224 | rs116557628 | LRBA | T>C | 2090 | 16278 | 26.53 | 2.591e-07 | 1.129 |
| chr6:32218681 | rs10223710 | - | A>G | 17445 | 158805 | 26.4 | 2.781e-07 | 0.9556 |
| chr6:25842951 | rs1408272 | SLC17A3 | T>G | 7753 | 64131 | 25.93 | 3.54e-07 | 1.066 |
| chr6:32218989 | rs9296015 | - | G>A | 17453 | 158781 | 25.57 | 4.273e-07 | 0.9563 |
| chr6:32681277 | rs2858331 | - | A>G | 34183 | 306902 | 25.22 | 5.127e-07 | 0.9647 |
| chr13:58278527 | rs7338138 | PCDH17 | G>A | 17781 | 150581 | 24.99 | 5.772e-07 | 1.045 |
| chr6:32211317 | rs411326 | - | C>T | 24837 | 224134 | 24.4 | 7.827e-07 | 0.9622 |
| chr6:32667850 | rs9275356 | - | C>G | 10112 | 84501 | 23.76 | 1.09e-06 | 1.056 |
| chr18:5253441 | rs72862050 | - | G>T | 1928 | 15077 | 22.94 | 1.676e-06 | 1.124 |
| chr6:32607376 | rs34250758 | HLA-DQA1 | G>A | 19300 | 163990 | 22.82 | 1.779e-06 | 1.042 |
| chr17:38364764 | rs55673000 | - | C>T | 14871 | 125593 | 22.57 | 2.029e-06 | 1.046 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr6:32577973 | rs532965 | - | T>G | 19086 | 37504 | 24.37 | 7.943e-07 | 1.05 |
| chr6:32607376 | rs34250758 | HLA-DQA1 | G>A | 20021 | 39410 | 24.31 | 8.22e-07 | 1.049 |
| chr6:32583357 | rs6931277 | - | A>T | 18655 | 36687 | 23.43 | 1.294e-06 | 1.05 |
| chr21:15486701 | rs13050985 | LIPI | A>C | 18100 | 35531 | 23.38 | 1.327e-06 | 1.05 |
| chr6:32582650 | rs3104413 | - | C>G | 18915 | 37177 | 23.32 | 1.375e-06 | 1.049 |
| chr21:15459285 | rs8134447 | - | G>C | 19734 | 38842 | 23.3 | 1.389e-06 | 1.048 |
| chr6:32602396 | rs9272226 | HLA-DQA1 | T>C | 37537 | 74895 | 22.66 | 1.932e-06 | 1.039 |
| chr6:84472284 | rs117024133 | - | T>C | 2939 | 5399 | 22.28 | 2.354e-06 | 1.116 |
| chr6:32577380 | rs660895 | - | A>G | 21380 | 42212 | 21.33 | 3.875e-06 | 1.045 |
| chr6:32387809 | rs2395163 | - | T>C | 22253 | 43980 | 21.04 | 4.506e-06 | 1.044 |
| chr6:32667850 | rs9275356 | - | C>G | 10493 | 20373 | 20.44 | 6.141e-06 | 1.059 |
| chr5:148215902 | rs17108817 | - | C>T | 47001 | 97866 | 20.27 | 6.721e-06 | 0.9655 |
| chr6:32375973 | rs3763309 | - | C>A | 22234 | 43987 | 20.2 | 6.991e-06 | 1.043 |
| chr6:32581973 | rs521539 | - | G>A | 21386 | 42267 | 20.17 | 7.081e-06 | 1.043 |
| chr2:237756905 | rs13021676 | - | T>G | 8677 | 18743 | 20.08 | 7.418e-06 | 0.9409 |
| chr8:37080350 | rs76014438 | - | G>A | 3985 | 8853 | 19.84 | 8.406e-06 | 0.9169 |
| chr6:32376348 | rs3763312 | - | G>A | 22105 | 43736 | 19.67 | 9.212e-06 | 1.042 |
| chr1:61668693 | rs115053410 | NFIA | C>T | 1635 | 2921 | 19.49 | 1.011e-05 | 1.147 |
| chr13:40437892 | rs9548954 | - | A>G | 3493 | 6519 | 19.48 | 1.018e-05 | 1.099 |
| chr6:32371915 | rs3793127 | BTNL2 | C>T | 22253 | 44050 | 19.42 | 1.049e-05 | 1.042 |
| chr21:15486701 | rs13050985 | LIPI | A>C | 16948 | 33163 | 22.81 | 1.787e-06 | 1.051 |
| chr6:32218681 | rs10223710 | - | A>G | 17445 | 36998 | 22.09 | 2.596e-06 | 0.9532 |
| chr8:37080350 | rs76014438 | - | G>A | 3906 | 8703 | 22.06 | 2.638e-06 | 0.9117 |
| chr6:32577973 | rs532965 | - | T>G | 18469 | 36261 | 22.04 | 2.676e-06 | 1.048 |
| chr6:32583357 | rs6931277 | - | A>T | 18063 | 35479 | 22.0 | 2.728e-06 | 1.049 |
| chr6:32218989 | rs9296015 | - | G>A | 17453 | 36995 | 21.65 | 3.269e-06 | 0.9537 |
| chr6:32607376 | rs34250758 | HLA-DQA1 | G>A | 19300 | 37961 | 21.63 | 3.314e-06 | 1.047 |
| chr6:32582650 | rs3104413 | - | C>G | 18302 | 35937 | 21.61 | 3.348e-06 | 1.048 |
| chr21:15459285 | rs8134447 | - | G>C | 18533 | 36410 | 21.43 | 3.671e-06 | 1.048 |
| chr6:32220577 | rs12525893 | - | C>T | 17038 | 36118 | 21.31 | 3.914e-06 | 0.9536 |
| chr13:40437892 | rs9548954 | - | A>G | 3143 | 5799 | 21.13 | 4.285e-06 | 1.109 |
| chr6:32259923 | rs17422727 | TSBP1 | C>G | 15077 | 32037 | 20.86 | 4.931e-06 | 0.9519 |
| chr6:32667850 | rs9275356 | - | C>G | 10112 | 19566 | 20.61 | 5.627e-06 | 1.061 |
| chr2:237756905 | rs13021676 | - | T>G | 7630 | 16521 | 20.58 | 5.704e-06 | 0.9365 |
| chr6:32577380 | rs660895 | - | A>G | 20510 | 40411 | 20.27 | 6.713e-06 | 1.045 |
| chr6:84472284 | rs117024133 | - | T>C | 2857 | 5256 | 20.25 | 6.791e-06 | 1.112 |
| chr6:32387809 | rs2395163 | - | T>C | 21338 | 42083 | 20.0 | 7.763e-06 | 1.044 |
| chr6:31449778 | rs2523647 | - | A>G | 18779 | 36963 | 19.89 | 8.185e-06 | 1.046 |
| chr2:190047094 | rs55851872 | COL5A2 | T>C | 18016 | 38087 | 19.83 | 8.478e-06 | 0.9561 |
| chr6:32375973 | rs3763309 | - | C>A | 21358 | 42154 | 19.59 | 9.604e-06 | 1.043 |
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 |