Statistics
| Case | Control |
|---|---|
| 19565 | 440629 |
Phenotype Definition
Edema affecting the region situated around the orbit of the eye. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 2193 | 64865 | 150.8 | 1.163e-34 | 0.7608 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 778 | 26748 | 130.6 | 2.955e-30 | 0.6592 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 1865 | 55127 | 125.9 | 3.218e-29 | 0.7636 |
| chr20:2315543 | rs6132532 | AL121899.2 | A>G | 1632 | 47902 | 103.7 | 2.32e-24 | 0.7703 |
| chr15:48392165 | rs1834640 | - | A>G | 984 | 30640 | 94.23 | 2.812e-22 | 0.7284 |
| chr2:66725070 | rs12995572 | MEIS1 | G>C | 846 | 26305 | 79.74 | 4.276e-19 | 0.7306 |
| chr6:170242949 | rs9396958 | - | T>C | 451 | 15663 | 78.64 | 7.467e-19 | 0.6552 |
| chr5:33955326 | rs35390 | SLC45A2 | A>C | 1384 | 39763 | 72.57 | 1.615e-17 | 0.7894 |
| chr5:33955673 | rs35391 | SLC45A2 | C>T | 1379 | 39601 | 71.97 | 2.19e-17 | 0.7899 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 3292 | 86816 | 70.29 | 5.109e-17 | 0.8563 |
| chr5:147863034 | rs9325101 | HTR4 | A>G | 486 | 16254 | 69.93 | 6.139e-17 | 0.6805 |
| chr6:3185712 | rs7754077 | - | C>T | 555 | 18117 | 69.92 | 6.161e-17 | 0.697 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 584 | 18793 | 67.78 | 1.83e-16 | 0.707 |
| chr1:40368905 | rs7548524 | - | C>T | 387 | 13393 | 66.69 | 3.173e-16 | 0.6569 |
| chr2:3313043 | rs73133173 | EIPR1 | A>C | 411 | 14052 | 66.24 | 3.984e-16 | 0.6659 |
| chr6:3189788 | rs4327734 | - | C>T | 415 | 14140 | 65.72 | 5.208e-16 | 0.6682 |
| chr23:71628912 | rs3012642 | AL133500.1 | A>G | 679 | 22045 | 65.39 | 6.153e-16 | 0.7281 |
| chr15:73142636 | rs4777559 | - | C>T | 431 | 14555 | 65.32 | 6.36e-16 | 0.6739 |
| chr15:45491394 | rs1648299 | SHF | T>C | 510 | 16649 | 64.37 | 1.032e-15 | 0.697 |
| chr10:108672251 | rs1572457 | SORCS1 | C>T | 319 | 11399 | 63.43 | 1.66e-15 | 0.6375 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 8880 | 190035 | 27.74 | 1.387e-07 | 1.067 |
| chr5:127548955 | rs36694 | - | A>C | 10504 | 226504 | 24.98 | 5.806e-07 | 1.06 |
| chr7:152339892 | rs57333909 | - | G>A | 3808 | 79287 | 24.78 | 6.428e-07 | 1.091 |
| chr5:127552590 | rs2546147 | - | A>G | 10538 | 227670 | 23.95 | 9.892e-07 | 1.059 |
| chr6:30075864 | Affx-28423542 | TRIM31 | G>A | 16462 | 359876 | 23.93 | 9.997e-07 | 1.053 |
| chr9:16843773 | rs10962635 | BNC2 | C>T | 1045 | 27275 | 22.61 | 1.983e-06 | 0.8592 |
| chr18:42733641 | rs77373984 | - | C>T | 411 | 7307 | 22.07 | 2.622e-06 | 1.27 |
| chr6:85482785 | rs112663347 | - | C>A | 5333 | 127557 | 21.65 | 3.274e-06 | 0.9324 |
| chr12:89909623 | rs75929616 | POC1B | A>G | 1743 | 35153 | 21.04 | 4.504e-06 | 1.122 |
| chr1:168260377 | rs140045735 | TBX19 | A>AGTTTC | 1226 | 24191 | 21.03 | 4.524e-06 | 1.146 |
| chr6:26289435 | rs9379843 | - | G>A | 19420 | 426982 | 20.83 | 5.018e-06 | 1.048 |
| chr5:127347013 | rs34145453 | - | A>G | 14772 | 322436 | 20.74 | 5.267e-06 | 1.05 |
| chr6:26285560 | rs2393592 | H4C8 | G>A | 19404 | 426577 | 20.73 | 5.281e-06 | 1.048 |
| chr6:26303319 | rs9357004 | - | T>C | 18589 | 428893 | 20.67 | 5.456e-06 | 0.954 |
| chr6:26293338 | rs7746807 | - | A>C | 19341 | 425560 | 19.78 | 8.674e-06 | 1.047 |
| chr6:26287043 | rs1124999 | - | T>G | 19377 | 426149 | 19.7 | 9.057e-06 | 1.047 |
| chr6:26287256 | rs1125000 | - | T>C | 19553 | 430079 | 19.69 | 9.095e-06 | 1.047 |
| chr3:5724531 | rs1869244 | - | G>A | 18204 | 400486 | 19.68 | 9.173e-06 | 1.047 |
| chr9:16904735 | rs34393116 | - | G>A | 1877 | 46727 | 19.19 | 1.182e-05 | 0.8997 |
| chr6:151225565 | rs2295083 | MTHFD1L | G>A | 6696 | 158469 | 19.14 | 1.218e-05 | 0.9418 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr6:41379667 | rs74735168 | - | C>T | 699 | 209 | 24.15 | 8.907e-07 | 0.6772 |
| chr6:100252020 | rs116865129 | - | T>C | 578 | 178 | 23.71 | 1.119e-06 | 0.6578 |
| chr10:18599137 | rs1972396 | CACNB2 | T>C | 1019 | 286 | 23.54 | 1.225e-06 | 0.7197 |
| chr15:24160001 | rs117604384 | - | T>C | 1072 | 293 | 20.53 | 5.858e-06 | 0.7386 |
| chr3:184560356 | rs112077925 | VPS8 | A>G | 897 | 250 | 19.68 | 9.15e-06 | 0.7256 |
| chr4:33695600 | rs112589644 | - | T>A | 466 | 144 | 19.44 | 1.037e-05 | 0.6564 |
| chr2:47363682 | rs77526724 | STPG4 | G>A | 431 | 135 | 19.26 | 1.144e-05 | 0.6484 |
| chr1:14317494 | rs12076206 | KAZN | T>G | 6806 | 1554 | 19.09 | 1.246e-05 | 0.8724 |
| chr7:117484407 | rs11980952 | CTTNBP2 | G>T | 517 | 156 | 18.37 | 1.823e-05 | 0.6752 |
| chr4:34259833 | rs111579422 | - | C>T | 468 | 143 | 18.29 | 1.9e-05 | 0.6642 |
| chr2:104228565 | rs115480611 | - | C>G | 613 | 179 | 18.28 | 1.907e-05 | 0.6941 |
| chr8:73133574 | rs4472564 | - | A>G | 723 | 93 | 18.22 | 1.967e-05 | 1.598 |
| chr3:172166033 | rs495225 | GHSR | A>G | 11113 | 2082 | 18.13 | 2.06e-05 | 1.126 |
| chr12:68483505 | rs10784672 | - | T>C | 8511 | 1910 | 18.12 | 2.074e-05 | 0.8841 |
| chr5:62960321 | rs17178298 | - | T>C | 2601 | 635 | 18.07 | 2.133e-05 | 0.8223 |
| chr23:148896714 | rs73244660 | - | C>T | 1511 | 392 | 17.98 | 2.228e-05 | 0.7805 |
| chr7:29927228 | rs174974 | WIPF3 | A>G | 9978 | 1863 | 17.77 | 2.489e-05 | 1.13 |
| chr12:68495027 | rs11177048 | - | G>A | 7106 | 1611 | 17.62 | 2.696e-05 | 0.8787 |
| chr9:23928316 | rs79669204 | - | T>A | 741 | 209 | 17.58 | 2.757e-05 | 0.7182 |
| chr19:50344699 | rs117605034 | - | G>C | 530 | 157 | 17.21 | 3.347e-05 | 0.6851 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H023 | Blepharochalasis | 5/20 |
| ICD: L031 | Cellulitis of other parts of limb | 9/20 |
| ICD: L989 | Disorder of skin and subcutaneous tissue, unspecified | 9/20 |