Statistics
| Case | Control |
|---|---|
| 445 | 459749 |
Phenotype Definition
A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. [PMID:24023426]
Phenotype Comment
A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr23:11812584 | rs858080 | - | T>C | 126 | 86787 | 32.59 | 1.139e-08 | 1.745 |
| chr9:118575953 | rs2027934 | - | C>A | 57 | 28507 | 30.25 | 3.8e-08 | 2.086 |
| chr20:16703911 | rs73597795 | - | G>A | 41 | 19622 | 25.19 | 5.201e-07 | 2.187 |
| chr15:98384280 | rs7183643 | - | A>G | 44 | 21525 | 24.58 | 7.123e-07 | 2.114 |
| chr7:149174265 | rs4725816 | ZNF746 | G>A | 309 | 244745 | 24.26 | 8.409e-07 | 1.403 |
| chr10:129958296 | rs7906241 | - | T>G | 168 | 119260 | 23.96 | 9.861e-07 | 1.511 |
| chr1:213573311 | rs73099703 | - | T>C | 40 | 19184 | 23.68 | 1.135e-06 | 2.155 |
| chr14:59424757 | rs10143421 | - | G>A | 46 | 23194 | 23.57 | 1.204e-06 | 2.052 |
| chr5:167996011 | Affx-52340376 | PANK3 | A>AG | 228 | 172603 | 22.99 | 1.627e-06 | 1.436 |
| chr5:168148965 | rs35668605 | SLIT3 | C>T | 264 | 205452 | 22.82 | 1.782e-06 | 1.41 |
| chr4:166399268 | rs114662745 | CPE | A>C | 45 | 22926 | 22.28 | 2.355e-06 | 2.027 |
| chr5:168093522 | rs1048307 | SLIT3 | G>A | 235 | 181113 | 22.15 | 2.519e-06 | 1.422 |
| chr13:101513230 | rs116972700 | - | G>A | 33 | 15103 | 21.8 | 3.021e-06 | 2.241 |
| chr7:149289464 | rs354033 | - | G>A | 310 | 249114 | 21.59 | 3.383e-06 | 1.376 |
| chr3:7508738 | rs17656831 | GRM7 | A>G | 233 | 179610 | 20.94 | 4.741e-06 | 1.409 |
| chr14:39223953 | rs12882860 | - | A>C | 357 | 294494 | 20.74 | 5.267e-06 | 1.354 |
| chr2:21056060 | rs16988099 | - | A>G | 33 | 15517 | 20.43 | 6.196e-06 | 2.184 |
| chr9:9064330 | rs10759037 | PTPRD | T>C | 306 | 377542 | 20.43 | 6.178e-06 | 0.732 |
| chr1:26549989 | rs11247876 | - | G>A | 144 | 101994 | 20.42 | 6.207e-06 | 1.501 |
| chr16:51193047 | rs77214081 | - | A>G | 67 | 39648 | 20.29 | 6.666e-06 | 1.757 |
| chr15:98384280 | rs7183643 | - | A>G | 27 | 10337 | 29.14 | 6.737e-08 | 2.753 |
| chr2:99307175 | rs72825768 | MGAT4A | A>C | 31 | 13549 | 24.69 | 6.726e-07 | 2.413 |
| chr5:168148965 | rs35668605 | SLIT3 | C>T | 247 | 192881 | 24.69 | 6.719e-07 | 1.448 |
| chr4:166399268 | rs114662745 | CPE | A>C | 44 | 22105 | 24.31 | 8.201e-07 | 2.108 |
| chr13:101513230 | rs116972700 | - | G>A | 33 | 14806 | 24.13 | 9.002e-07 | 2.334 |
| chr7:149174265 | rs4725816 | ZNF746 | G>A | 290 | 233758 | 23.96 | 9.814e-07 | 1.418 |
| chr20:16703911 | rs73597795 | - | G>A | 36 | 17477 | 22.82 | 1.778e-06 | 2.211 |
| chr5:168093522 | rs1048307 | SLIT3 | G>A | 218 | 170611 | 21.79 | 3.036e-06 | 1.437 |
| chr7:149289464 | rs354033 | - | G>A | 289 | 235970 | 21.4 | 3.737e-06 | 1.391 |
| chr16:51193047 | rs77214081 | - | A>G | 65 | 38590 | 21.21 | 4.107e-06 | 1.796 |
| chr23:11812584 | rs858080 | - | T>C | 108 | 81802 | 21.09 | 4.388e-06 | 1.619 |
| chr5:167996011 | Affx-52340376 | PANK3 | A>AG | 209 | 161828 | 20.85 | 4.96e-06 | 1.433 |
| chr19:19653130 | rs117251424 | CILP2 | T>G | 25 | 10772 | 20.62 | 5.592e-06 | 2.441 |
| chr7:149290497 | rs354034 | - | G>A | 287 | 235592 | 20.55 | 5.809e-06 | 1.383 |
| chr8:103734960 | rs76290957 | - | C>T | 122 | 85897 | 20.31 | 6.598e-06 | 1.547 |
| chr7:64089090 | rs4313046 | - | T>A | 182 | 138220 | 20.19 | 7.012e-06 | 1.45 |
| chr1:62775825 | rs116747469 | KANK4 | G>C | 49 | 27230 | 19.98 | 7.809e-06 | 1.909 |
| chr5:172361257 | rs528010 | ERGIC1 | A>G | 43 | 23117 | 19.82 | 8.518e-06 | 1.98 |
| chr12:65261523 | rs75066970 | TBC1D30 | C>T | 41 | 21624 | 19.62 | 9.437e-06 | 2.004 |
| chr8:68396915 | rs17343819 | CPA6 | T>C | 186 | 142701 | 19.45 | 1.034e-05 | 1.436 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr8:3797879 | rs2627525 | CSMD1 | G>A | 158 | 87 | 32.6 | 1.131e-08 | 0.415 |
| chr17:14455890 | rs77655930 | - | G>A | 10 | 18 | 29.97 | 4.382e-08 | 0.1474 |
| chr2:84039236 | rs4832327 | - | T>C | 27 | 28 | 28.28 | 1.05e-07 | 0.2496 |
| chr15:59585013 | rs78824022 | MYO1E | C>T | 15 | 20 | 26.21 | 3.07e-07 | 0.1976 |
| chr12:132976365 | rs80198273 | - | T>C | 1 | 8 | 23.82 | 1.06e-06 | 0.03401 |
| chr2:124710795 | rs1214081 | - | C>A | 451 | 82 | 23.16 | 1.491e-06 | 2.016 |
| chr20:21237452 | rs73128920 | - | C>T | 8 | 14 | 22.91 | 1.694e-06 | 0.1527 |
| chr17:54642770 | rs117576501 | - | G>A | 26 | 25 | 22.5 | 2.102e-06 | 0.2746 |
| chr17:14438957 | rs80077330 | - | G>A | 51 | 36 | 21.25 | 4.021e-06 | 0.3592 |
| chr6:22154201 | rs4364475 | - | A>G | 80 | 47 | 21.22 | 4.103e-06 | 0.4075 |
| chr14:59686598 | rs79184350 | DAAM1 | C>T | 22 | 22 | 21.18 | 4.172e-06 | 0.2627 |
| chr10:85628432 | rs79407513 | - | T>C | 5 | 11 | 20.89 | 4.867e-06 | 0.1225 |
| chr2:112323829 | rs139586558 | - | C>A | 25 | 23 | 19.73 | 8.911e-06 | 0.2865 |
| chr2:84061860 | rs79679468 | - | C>T | 33 | 27 | 19.64 | 9.346e-06 | 0.3197 |
| chr13:52329758 | rs12430600 | WDFY2 | C>T | 70 | 43 | 19.52 | 9.939e-06 | 0.4088 |
| chr20:20865526 | rs73130458 | - | G>A | 13 | 16 | 19.26 | 1.142e-05 | 0.217 |
| chr3:43230723 | rs17075286 | - | C>G | 13 | 16 | 19.19 | 1.18e-05 | 0.2175 |
| chr4:183166469 | rs7696796 | TENM3 | G>A | 260 | 38 | 19.15 | 1.207e-05 | 2.255 |
| chr1:58609441 | rs17491825 | DAB1 | T>C | 15 | 17 | 19.06 | 1.266e-05 | 0.2329 |
| chr6:77184573 | rs113162312 | - | G>A | 24 | 22 | 18.89 | 1.384e-05 | 0.2872 |
| chr17:14455890 | rs77655930 | - | G>A | 10 | 18 | 31.16 | 2.37e-08 | 0.1424 |
| chr3:43230723 | rs17075286 | - | C>G | 4 | 13 | 31.08 | 2.47e-08 | 0.07971 |
| chr8:3797879 | rs2627525 | CSMD1 | G>A | 150 | 77 | 26.02 | 3.378e-07 | 0.4374 |
| chr2:124710795 | rs1214081 | - | C>A | 414 | 69 | 25.48 | 4.462e-07 | 2.19 |
| chr17:14438957 | rs80077330 | - | G>A | 44 | 34 | 25.12 | 5.395e-07 | 0.3143 |
| chr15:59585013 | rs78824022 | MYO1E | C>T | 15 | 19 | 24.74 | 6.548e-07 | 0.2017 |
| chr12:132976365 | rs80198273 | - | T>C | 1 | 8 | 24.54 | 7.272e-07 | 0.03298 |
| chr20:21237452 | rs73128920 | - | C>T | 8 | 13 | 20.91 | 4.818e-06 | 0.1598 |
| chr7:28764109 | rs2066979 | CREB5 | C>T | 358 | 59 | 20.74 | 5.263e-06 | 2.095 |
| chr1:58609441 | rs17491825 | DAB1 | T>C | 13 | 16 | 20.49 | 6e-06 | 0.2075 |
| chr9:16474605 | rs59270230 | BNC2 | C>G | 44 | 31 | 19.03 | 1.287e-05 | 0.354 |
| chr2:34480634 | rs80123859 | - | G>A | 0 | 5 | 18.95 | 1.339e-05 | 0.0 |
| chr7:28762963 | rs2237349 | CREB5 | T>C | 381 | 66 | 18.74 | 1.496e-05 | 1.981 |
| chr7:156119592 | rs75854995 | - | C>T | 5 | 10 | 18.55 | 1.655e-05 | 0.1311 |
| chr10:85628432 | rs79407513 | - | T>C | 5 | 10 | 18.55 | 1.655e-05 | 0.1311 |
| chr6:22154201 | rs4364475 | - | A>G | 69 | 40 | 18.45 | 1.748e-05 | 0.4067 |
| chr23:131119760 | rs112895891 | - | C>T | 8 | 13 | 18.31 | 1.875e-05 | 0.174 |
| chr5:147228472 | rs60044743 | - | T>C | 11 | 14 | 18.23 | 1.956e-05 | 0.2038 |
| chr9:131821267 | rs17452603 | MIGA2 | G>A | 122 | 61 | 18.16 | 2.032e-05 | 0.4751 |
| chr11:37879405 | rs72962290 | - | G>A | 20 | 19 | 17.96 | 2.253e-05 | 0.2698 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: A418 | Other specified septicaemia | 7/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: A499 | Bacterial infection, unspecified | 0/20 |