Statistics
| Case | Control |
|---|---|
| 8896 | 451298 |
Phenotype Definition
Absence or underdevelopment of the ear lobes. [HPO:curators]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 6202 | 287495 | 106.6 | 5.351e-25 | 1.176 |
| chr11:111165009 | rs7103178 | - | T>C | 6208 | 288675 | 100.3 | 1.301e-23 | 1.171 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 8376 | 467727 | 90.07 | 2.304e-21 | 0.8679 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 6692 | 315956 | 87.31 | 9.275e-21 | 1.156 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 321 | 27205 | 80.81 | 2.484e-19 | 0.6042 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 976 | 66082 | 74.6 | 5.768e-18 | 0.7518 |
| chr15:48392165 | rs1834640 | - | A>G | 393 | 31231 | 74.56 | 5.891e-18 | 0.6443 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 817 | 56175 | 69.14 | 9.186e-17 | 0.7418 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 221 | 19156 | 60.33 | 8.012e-15 | 0.5929 |
| chr2:242813574 | rs4075286 | RTP5 | T>C | 380 | 28832 | 57.77 | 2.945e-14 | 0.6743 |
| chr15:89154966 | rs7170666 | - | G>A | 736 | 50010 | 56.77 | 4.898e-14 | 0.7523 |
| chr16:28995057 | rs11859822 | SPNS1 | T>C | 384 | 29052 | 56.66 | 5.178e-14 | 0.6782 |
| chr16:28954860 | rs7203982 | - | T>C | 384 | 28998 | 56.38 | 5.974e-14 | 0.6788 |
| chr11:111213944 | rs12365324 | - | G>A | 7751 | 375850 | 55.46 | 9.528e-14 | 1.119 |
| chr15:45491394 | rs1648299 | SHF | T>C | 196 | 16963 | 53.11 | 3.161e-13 | 0.5942 |
| chr2:163216109 | rs3213843 | GCA | C>T | 122 | 12030 | 52.64 | 4.006e-13 | 0.5216 |
| chr6:3185712 | rs7754077 | - | C>T | 221 | 18451 | 51.72 | 6.388e-13 | 0.6158 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 215 | 17930 | 50.27 | 1.34e-12 | 0.616 |
| chr3:30822859 | rs13316876 | GADL1 | T>C | 625 | 42701 | 49.75 | 1.744e-12 | 0.7496 |
| chr5:40265904 | rs1348612 | - | A>G | 5595 | 267208 | 49.65 | 1.841e-12 | 1.121 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 5967 | 272176 | 94.34 | 2.659e-22 | 1.168 |
| chr11:111165009 | rs7103178 | - | T>C | 5969 | 272824 | 89.98 | 2.405e-21 | 1.164 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 7921 | 430757 | 71.22 | 3.202e-17 | 0.8792 |
| chr11:111125512 | rs2001754 | C11orf53 | A>G | 6519 | 304661 | 67.63 | 1.969e-16 | 1.138 |
| chr8:117630683 | rs16892766 | - | A>C | 1678 | 71434 | 54.87 | 1.288e-13 | 1.212 |
| chr8:117640315 | rs11986063 | - | C>T | 1827 | 78559 | 53.93 | 2.072e-13 | 1.201 |
| chr12:51213765 | rs11169571 | ATF1 | T>C | 7602 | 363178 | 45.47 | 1.546e-11 | 1.109 |
| chr12:51203371 | rs1129406 | ATF1 | C>T | 7613 | 363965 | 44.06 | 3.178e-11 | 1.107 |
| chr10:8701219 | rs10795668 | - | G>A | 5375 | 294099 | 44.02 | 3.246e-11 | 0.8964 |
| chr12:51171090 | rs12372718 | ATF1 | A>G | 7608 | 363532 | 43.76 | 3.713e-11 | 1.107 |
| chr12:51032415 | rs12818741 | DIP2B | A>G | 6687 | 318428 | 40.48 | 1.983e-10 | 1.105 |
| chr8:128413305 | rs6983267 | POU5F1B | G>T | 8142 | 434619 | 40.09 | 2.42e-10 | 0.9083 |
| chr12:50934931 | rs11169484 | DIP2B | G>A | 6640 | 317530 | 36.9 | 1.243e-09 | 1.1 |
| chr11:111213944 | rs12365324 | - | G>A | 7606 | 365873 | 36.35 | 1.651e-09 | 1.097 |
| chr15:32992658 | rs28399071 | - | G>A | 1897 | 84194 | 36.33 | 1.662e-09 | 1.159 |
| chr5:40265904 | rs1348612 | - | A>G | 5479 | 259297 | 36.03 | 1.944e-09 | 1.104 |
| chr8:128407443 | rs10505477 | POU5F1B | A>G | 8326 | 442706 | 35.7 | 2.307e-09 | 0.9133 |
| chr15:33022090 | rs35330276 | GREM1 | G>A | 3617 | 167605 | 35.6 | 2.421e-09 | 1.119 |
| chr18:46453754 | rs35352860 | SMAD7 | C>T | 4399 | 241124 | 35.6 | 2.424e-09 | 0.9006 |
| chr18:60845776 | rs72943036 | BCL2 | C>T | 1328 | 78371 | 32.84 | 1.003e-08 | 0.8481 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:22125503 | rs1333049 | - | G>C | 8518 | 14035 | 67.85 | 1.766e-16 | 0.8529 |
| chr9:22124477 | rs10757278 | - | A>G | 8532 | 14033 | 63.85 | 1.346e-15 | 0.8569 |
| chr9:22115959 | rs2383207 | - | G>A | 8692 | 12176 | 63.61 | 1.513e-15 | 1.167 |
| chr9:22125347 | rs1333048 | - | A>C | 8824 | 14463 | 62.68 | 2.428e-15 | 0.8581 |
| chr6:160997118 | rs74617384 | LPA | A>T | 1345 | 2635 | 62.53 | 2.618e-15 | 0.7587 |
| chr6:161010118 | rs10455872 | LPA | A>G | 1393 | 2709 | 61.15 | 5.279e-15 | 0.7641 |
| chr9:22088260 | rs10757272 | - | C>T | 8607 | 14106 | 60.46 | 7.513e-15 | 0.8604 |
| chr9:22096055 | rs10757274 | - | A>G | 8674 | 14213 | 60.13 | 8.865e-15 | 0.8608 |
| chr9:22098574 | rs4977574 | - | A>G | 8641 | 14157 | 59.43 | 1.265e-14 | 0.8615 |
| chr9:22081850 | rs6475606 | - | C>T | 8559 | 14003 | 56.59 | 5.374e-14 | 0.8647 |
| chr11:111171709 | rs3802842 | COLCA2 | A>C | 5967 | 8237 | 47.77 | 4.794e-12 | 1.153 |
| chr18:46453463 | rs4939827 | SMAD7 | T>C | 7921 | 12959 | 46.55 | 8.935e-12 | 0.876 |
| chr9:22083404 | rs1333040 | - | T>C | 7377 | 10356 | 45.98 | 1.196e-11 | 1.143 |
| chr11:111165009 | rs7103178 | - | T>C | 5969 | 8270 | 43.68 | 3.872e-11 | 1.146 |
| chr12:112871372 | rs11066301 | PTPN11 | A>G | 7323 | 11952 | 39.29 | 3.661e-10 | 0.8846 |
| chr9:22003223 | rs3217992 | AL359922.1 | C>T | 6422 | 10556 | 39.08 | 4.074e-10 | 0.8825 |
| chr12:112486818 | rs17696736 | NAA25 | A>G | 7363 | 12004 | 39.04 | 4.156e-10 | 0.885 |
| chr10:8701219 | rs10795668 | - | G>A | 5375 | 8942 | 38.1 | 6.718e-10 | 0.8794 |
| chr12:112591686 | rs17630235 | - | G>A | 7006 | 11449 | 37.63 | 8.573e-10 | 0.8863 |
| chr12:111910219 | rs10774625 | ATXN2 | G>A | 8613 | 13889 | 36.21 | 1.776e-09 | 0.8902 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C187 | Sigmoid colon | 2/20 |
| ICD: D125 | Sigmoid colon | 15/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: H571 | Ocular pain | 0/20 |
| ICD-10: Y839 | Surgical procedure, unspecified | 0/20 |