Statistics
| Case | Control |
|---|---|
| 4122 | 456072 |
Phenotype Definition
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. [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 | 245 | 66813 | 205.6 | 1.248e-46 | 0.4062 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 205 | 56787 | 176.9 | 2.314e-40 | 0.4023 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 62 | 27464 | 133.5 | 6.971e-31 | 0.2551 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 473 | 89635 | 130.2 | 3.707e-30 | 0.5855 |
| chr5:33955326 | rs35390 | SLC45A2 | A>C | 154 | 40993 | 118.4 | 1.415e-27 | 0.4232 |
| chr5:33955673 | rs35391 | SLC45A2 | C>T | 154 | 40826 | 117.2 | 2.564e-27 | 0.4249 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 2105 | 199100 | 109.0 | 1.638e-25 | 1.303 |
| chr15:48392165 | rs1834640 | - | A>G | 105 | 31519 | 106.4 | 6.08e-25 | 0.377 |
| chr4:111910180 | rs17042615 | - | C>T | 32 | 16102 | 83.85 | 5.326e-20 | 0.2268 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 63 | 21307 | 81.79 | 1.515e-19 | 0.336 |
| chr16:89986117 | Affx-35293625 | MC1R | C>T | 1053 | 94025 | 77.26 | 1.498e-18 | 1.337 |
| chr10:49805216 | rs11101394 | ARHGAP22 | C>T | 50 | 18307 | 75.27 | 4.109e-18 | 0.3118 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 50 | 18095 | 74.23 | 6.955e-18 | 0.3141 |
| chr16:89101485 | rs73258295 | - | T>G | 103 | 26863 | 74.08 | 7.52e-18 | 0.4357 |
| chr5:147863034 | rs9325101 | HTR4 | A>G | 42 | 16698 | 73.86 | 8.382e-18 | 0.2869 |
| chr16:28995057 | rs11859822 | SPNS1 | T>C | 119 | 29317 | 73.48 | 1.018e-17 | 0.4613 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 62 | 19948 | 72.18 | 1.968e-17 | 0.3543 |
| chr16:28954860 | rs7203982 | - | T>C | 120 | 29262 | 72.1 | 2.049e-17 | 0.4659 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 74 | 21869 | 71.71 | 2.493e-17 | 0.3852 |
| chr11:89017961 | rs1126809 | TYR | G>A | 2682 | 269382 | 71.53 | 2.732e-17 | 1.222 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 2097 | 196818 | 75.39 | 3.857e-18 | 1.247 |
| chr2:202143928 | rs10931936 | CASP8 | C>T | 2519 | 244120 | 60.09 | 9.071e-15 | 1.205 |
| chr2:202122995 | rs3769823 | CASP8 | G>A | 2643 | 257539 | 59.88 | 1.01e-14 | 1.201 |
| chr16:89986117 | Affx-35293625 | MC1R | C>T | 1051 | 93140 | 57.61 | 3.192e-14 | 1.286 |
| chr16:89818732 | rs12931267 | FANCA | C>G | 1026 | 92069 | 49.69 | 1.804e-12 | 1.266 |
| chr6:421281 | rs62389423 | - | G>A | 1683 | 160182 | 46.09 | 1.13e-11 | 1.205 |
| chr20:2290333 | rs214803 | AL121899.2 | A>C | 1708 | 163592 | 43.15 | 5.069e-11 | 1.196 |
| chr1:228989201 | rs801109 | - | C>T | 2340 | 230194 | 42.91 | 5.744e-11 | 1.174 |
| chr11:89005253 | rs1847134 | TYR | A>C | 3042 | 305616 | 42.14 | 8.49e-11 | 1.16 |
| chr11:89017961 | rs1126809 | TYR | G>A | 2662 | 264675 | 41.91 | 9.535e-11 | 1.167 |
| chr16:90067136 | rs78800020 | - | G>C | 960 | 87233 | 40.93 | 1.579e-10 | 1.247 |
| chr16:90048395 | rs45610233 | - | C>T | 916 | 82740 | 40.82 | 1.67e-10 | 1.252 |
| chr16:90067184 | rs73283869 | - | G>A | 953 | 86773 | 39.68 | 2.997e-10 | 1.243 |
| chr11:89011046 | rs1393350 | TYR | G>A | 2631 | 263101 | 37.45 | 9.401e-10 | 1.156 |
| chr16:90027626 | rs8063761 | DEF8 | A>T | 3099 | 313833 | 36.47 | 1.547e-09 | 1.148 |
| chr8:101062888 | rs7818948 | RGS22 | G>A | 1087 | 142242 | 36.41 | 1.599e-09 | 0.8213 |
| chr16:90024202 | rs8049897 | DEF8 | G>A | 1612 | 155667 | 35.24 | 2.914e-09 | 1.18 |
| chr2:202215492 | rs13014235 | FLACC1 | G>C | 3481 | 356955 | 34.26 | 4.823e-09 | 1.14 |
| chr20:2279955 | rs62192643 | AL121899.2 | G>A | 1382 | 132465 | 33.38 | 7.562e-09 | 1.187 |
| chr2:202202791 | rs10201587 | FLACC1 | G>A | 4269 | 444126 | 32.38 | 1.268e-08 | 1.135 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 205 | 139 | 43.78 | 3.674e-11 | 0.4833 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 245 | 151 | 36.68 | 1.394e-09 | 0.5318 |
| chr26:10400 | Affx-89025669 | - | C>T | 18 | 28 | 31.4 | 2.104e-08 | 0.2128 |
| chr13:73649397 | rs4885064 | KLF5 | A>C | 27 | 34 | 30.48 | 3.376e-08 | 0.2645 |
| chr16:89101485 | rs73258295 | - | T>G | 103 | 77 | 30.04 | 4.234e-08 | 0.4435 |
| chr12:24768847 | rs1386639 | - | G>T | 2919 | 1136 | 27.55 | 1.53e-07 | 0.7907 |
| chr6:136517455 | rs6900658 | - | C>G | 112 | 79 | 27.19 | 1.842e-07 | 0.4689 |
| chr11:89017961 | rs1126809 | TYR | G>A | 2682 | 758 | 25.87 | 3.652e-07 | 1.282 |
| chr23:78616350 | rs1751094 | ITM2A | T>G | 86 | 67 | 25.75 | 3.881e-07 | 0.4425 |
| chr1:864757 | rs2340588 | SAMD11 | A>G | 75 | 59 | 25.66 | 4.077e-07 | 0.4221 |
| chr1:236085940 | rs12038310 | - | C>T | 36 | 37 | 25.41 | 4.635e-07 | 0.3243 |
| chr23:78088278 | rs78287046 | - | G>T | 85 | 66 | 25.25 | 5.041e-07 | 0.4436 |
| chr5:33955673 | rs35391 | SLC45A2 | C>T | 154 | 97 | 24.87 | 6.128e-07 | 0.5245 |
| chr9:730054 | rs12352313 | KANK1 | A>G | 27 | 31 | 24.79 | 6.406e-07 | 0.2905 |
| chr7:138867459 | rs6955929 | TTC26 | T>C | 445 | 222 | 24.76 | 6.491e-07 | 0.6561 |
| chr4:111910180 | rs17042615 | - | C>T | 32 | 34 | 24.47 | 7.564e-07 | 0.314 |
| chr11:89011046 | rs1393350 | TYR | G>A | 2651 | 750 | 24.27 | 8.394e-07 | 1.271 |
| chr16:88321213 | rs7184400 | - | A>G | 31 | 33 | 23.96 | 9.845e-07 | 0.3124 |
| chr6:39152540 | rs1978609 | - | G>T | 895 | 396 | 23.94 | 9.963e-07 | 0.7292 |
| chr5:33955326 | rs35390 | SLC45A2 | A>C | 154 | 96 | 23.9 | 1.016e-06 | 0.53 |
| chr5:25059154 | rs115055295 | - | C>G | 155 | 96 | 25.36 | 4.761e-07 | 0.5205 |
| chr2:202215492 | rs13014235 | FLACC1 | G>C | 3481 | 1005 | 21.52 | 3.505e-06 | 1.236 |
| chr15:94366505 | rs16948499 | - | A>G | 124 | 78 | 21.5 | 3.544e-06 | 0.5136 |
| chr20:32174542 | rs79521234 | CBFA2T2 | G>A | 321 | 161 | 20.4 | 6.278e-06 | 0.6409 |
| chr6:39152540 | rs1978609 | - | G>T | 877 | 372 | 20.13 | 7.244e-06 | 0.7433 |
| chr3:30327788 | rs1495586 | - | G>A | 405 | 78 | 19.78 | 8.674e-06 | 1.738 |
| chr12:24768847 | rs1386639 | - | G>T | 2837 | 1057 | 19.74 | 8.885e-06 | 0.816 |
| chr4:190036768 | rs76479880 | - | G>A | 166 | 95 | 19.61 | 9.489e-06 | 0.5649 |
| chr7:49414027 | rs117026229 | - | C>T | 69 | 50 | 19.43 | 1.044e-05 | 0.4478 |
| chr11:89017961 | rs1126809 | TYR | G>A | 2662 | 750 | 19.27 | 1.136e-05 | 1.242 |
| chr2:202202791 | rs10201587 | FLACC1 | G>A | 4269 | 1272 | 19.13 | 1.219e-05 | 1.215 |
| chr2:6347524 | rs115251410 | - | C>T | 116 | 72 | 19.04 | 1.281e-05 | 0.5216 |
| chr15:42549777 | rs77151028 | TMEM87A | G>A | 116 | 72 | 19.02 | 1.292e-05 | 0.5217 |
| chr2:1497191 | rs77496745 | TPO | G>A | 261 | 134 | 18.78 | 1.469e-05 | 0.6268 |
| chr10:9540194 | rs17515236 | - | G>A | 1366 | 353 | 18.73 | 1.504e-05 | 1.32 |
| chr12:40511988 | rs7307584 | - | G>T | 1476 | 582 | 18.72 | 1.51e-05 | 0.7886 |
| chr9:89036027 | rs354815 | - | C>T | 4024 | 1445 | 18.68 | 1.548e-05 | 0.8251 |
| chr2:1487221 | rs79171266 | TPO | T>C | 267 | 136 | 18.4 | 1.788e-05 | 0.6321 |
| chr23:78088278 | rs78287046 | - | G>T | 73 | 53 | 18.39 | 1.804e-05 | 0.4659 |
| chr2:1495529 | rs79259951 | TPO | A>C | 505 | 230 | 18.38 | 1.806e-05 | 0.7021 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C445 | Skin of trunk | 13/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: D045 | Skin of trunk | 0/20 |
| ICD-10: D235 | Skin of trunk | 0/20 |
| ICD-10: L719 | Rosacea, unspecified | 0/20 |