Statistics
| Case | Control |
|---|---|
| 13144 | 447050 |
Phenotype Definition
A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. []
Phenotype Comment
In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr3:38051211 | rs75495843 | PLCD1 | G>A | 1978 | 27030 | 1703.0 | 0.0 | 2.611 |
| chr3:38567586 | rs6796657 | EXOG | C>A | 1039 | 18204 | 463.0 | 1.068e-102 | 1.986 |
| chr3:38386544 | rs114959814 | - | G>A | 1311 | 26412 | 367.3 | 7.336e-82 | 1.731 |
| chr3:37999745 | rs7629707 | CTDSPL | G>A | 2878 | 71713 | 298.7 | 6.273e-67 | 1.412 |
| chr3:38033071 | rs60721494 | VILL | G>T | 5323 | 146510 | 280.9 | 4.9e-63 | 1.296 |
| chr3:38047954 | rs9816693 | VILL | G>C | 6097 | 175372 | 211.8 | 5.451e-48 | 1.239 |
| chr3:38719603 | rs78791500 | - | G>A | 711 | 15813 | 128.8 | 7.559e-30 | 1.548 |
| chr3:37996268 | rs11919078 | CTDSPL | G>A | 4580 | 133714 | 124.9 | 5.266e-29 | 1.201 |
| chr3:38086463 | rs11713291 | DLEC1 | G>A | 3473 | 98844 | 124.6 | 6.367e-29 | 1.228 |
| chr3:38355917 | rs194706 | SLC22A14 | C>T | 2068 | 55546 | 121.4 | 3.096e-28 | 1.291 |
| chr3:37887360 | rs6794868 | - | G>A | 5278 | 158011 | 105.4 | 9.99e-25 | 1.173 |
| chr3:37760669 | rs73052920 | ITGA9 | T>G | 1217 | 31091 | 101.9 | 5.915e-24 | 1.35 |
| chr3:38005183 | rs6801985 | CTDSPL | G>A | 5415 | 162876 | 101.3 | 7.894e-24 | 1.167 |
| chr3:37996477 | rs9311171 | CTDSPL | T>G | 5424 | 163401 | 97.71 | 4.847e-23 | 1.164 |
| chr3:38671560 | rs45567533 | SCN5A | A>G | 5682 | 174403 | 74.57 | 5.862e-18 | 1.139 |
| chr3:37960045 | rs9816217 | CTDSPL | A>G | 6320 | 196364 | 66.4 | 3.678e-16 | 1.126 |
| chr3:38688617 | rs79160746 | SCN5A | G>A | 1412 | 39120 | 61.91 | 3.589e-15 | 1.244 |
| chr3:37914922 | rs9877943 | CTDSPL | G>A | 6846 | 215130 | 58.61 | 1.925e-14 | 1.114 |
| chr3:36863059 | rs78889204 | - | G>A | 1176 | 32342 | 54.63 | 1.452e-13 | 1.251 |
| chr3:38225781 | rs33965905 | OXSR1 | C>T | 5787 | 181112 | 51.55 | 6.975e-13 | 1.114 |
| chr3:38051211 | rs75495843 | PLCD1 | G>A | 1892 | 25965 | 1604.0 | 0.0 | 2.593 |
| chr3:38567586 | rs6796657 | EXOG | C>A | 1002 | 17500 | 447.3 | 2.85e-99 | 1.987 |
| chr3:38386544 | rs114959814 | - | G>A | 1259 | 25463 | 344.2 | 7.904e-77 | 1.72 |
| chr3:37999745 | rs7629707 | CTDSPL | G>A | 2677 | 65769 | 297.5 | 1.151e-66 | 1.429 |
| chr3:38033071 | rs60721494 | VILL | G>T | 5057 | 139189 | 260.2 | 1.589e-58 | 1.292 |
| chr3:38047954 | rs9816693 | VILL | G>C | 5647 | 160530 | 216.0 | 6.686e-49 | 1.251 |
| chr3:38355917 | rs194706 | SLC22A14 | C>T | 1826 | 45838 | 172.0 | 2.672e-39 | 1.381 |
| chr3:37996268 | rs11919078 | CTDSPL | G>A | 4185 | 119753 | 139.7 | 3.113e-32 | 1.224 |
| chr3:38719603 | rs78791500 | - | G>A | 692 | 15362 | 124.8 | 5.743e-29 | 1.547 |
| chr3:37887360 | rs6794868 | - | G>A | 4861 | 142745 | 121.8 | 2.58e-28 | 1.195 |
| chr3:38086463 | rs11713291 | DLEC1 | G>A | 3282 | 93486 | 113.1 | 2.026e-26 | 1.223 |
| chr3:37996477 | rs9311171 | CTDSPL | T>G | 5000 | 148310 | 108.4 | 2.205e-25 | 1.181 |
| chr3:38005183 | rs6801985 | CTDSPL | G>A | 5012 | 149837 | 97.94 | 4.323e-23 | 1.171 |
| chr3:37760669 | rs73052920 | ITGA9 | T>G | 1173 | 30074 | 93.97 | 3.206e-22 | 1.342 |
| chr3:38671560 | rs45567533 | SCN5A | A>G | 5432 | 166660 | 68.29 | 1.412e-16 | 1.136 |
| chr3:37960045 | rs9816217 | CTDSPL | A>G | 5876 | 181168 | 68.02 | 1.617e-16 | 1.132 |
| chr3:37914922 | rs9877943 | CTDSPL | G>A | 6362 | 198106 | 62.62 | 2.508e-15 | 1.123 |
| chr3:38688617 | rs79160746 | SCN5A | G>A | 1377 | 38194 | 58.15 | 2.426e-14 | 1.239 |
| chr3:38000885 | rs6787874 | CTDSPL | G>A | 7212 | 227153 | 56.16 | 6.68e-14 | 1.111 |
| chr5:1315660 | rs4975616 | - | A>G | 10486 | 376740 | 52.27 | 4.833e-13 | 0.9118 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr3:38051211 | rs75495843 | PLCD1 | G>A | 1892 | 5454 | 1249.0 | 1.512e-273 | 2.563 |
| chr3:38567586 | rs6796657 | EXOG | C>A | 1002 | 3628 | 373.3 | 3.544e-83 | 1.991 |
| chr3:38386544 | rs114959814 | - | G>A | 1259 | 5371 | 276.2 | 5.067e-62 | 1.693 |
| chr3:37999745 | rs7629707 | CTDSPL | G>A | 2677 | 13733 | 251.0 | 1.534e-56 | 1.42 |
| chr3:38033071 | rs60721494 | VILL | G>T | 5057 | 28993 | 223.7 | 1.38e-50 | 1.287 |
| chr3:38047954 | rs9816693 | VILL | G>C | 5647 | 33481 | 183.6 | 7.792e-42 | 1.245 |
| chr3:38355917 | rs194706 | SLC22A14 | C>T | 1826 | 9489 | 153.3 | 3.253e-35 | 1.386 |
| chr3:37996268 | rs11919078 | CTDSPL | G>A | 4185 | 25022 | 115.5 | 5.988e-27 | 1.215 |
| chr3:38719603 | rs78791500 | - | G>A | 692 | 3205 | 104.8 | 1.337e-24 | 1.539 |
| chr3:38086463 | rs11713291 | DLEC1 | G>A | 3282 | 19345 | 104.3 | 1.754e-24 | 1.228 |
| chr3:37996477 | rs9311171 | CTDSPL | T>G | 5000 | 30862 | 93.78 | 3.524e-22 | 1.178 |
| chr3:37887360 | rs6794868 | - | G>A | 4861 | 30090 | 87.94 | 6.735e-21 | 1.174 |
| chr3:38005183 | rs6801985 | CTDSPL | G>A | 5012 | 31115 | 87.35 | 9.102e-21 | 1.171 |
| chr3:37760669 | rs73052920 | ITGA9 | T>G | 1173 | 6310 | 76.55 | 2.151e-18 | 1.328 |
| chr3:38671560 | rs45567533 | SCN5A | A>G | 5432 | 34453 | 66.22 | 4.032e-16 | 1.142 |
| chr3:38688617 | rs79160746 | SCN5A | G>A | 1377 | 7818 | 58.73 | 1.809e-14 | 1.258 |
| chr3:37960045 | rs9816217 | CTDSPL | A>G | 5876 | 38020 | 48.38 | 3.515e-12 | 1.117 |
| chr2:219755011 | rs121908120 | WNT10A | T>A | 505 | 4904 | 47.83 | 4.642e-12 | 0.7224 |
| chr3:38659952 | rs55824920 | SCN5A | C>T | 9206 | 61092 | 47.37 | 5.874e-12 | 1.1 |
| chr3:38000885 | rs6787874 | CTDSPL | G>A | 7212 | 47317 | 46.67 | 8.396e-12 | 1.107 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: L720 | Epidermal cyst | 1/20 |
| ICD: L721 | Trichilemmal cyst | 18/20 |