Statistics
| Case | Control |
|---|---|
| 292 | 459902 |
Phenotype Definition
Hypomelanotic macules (\ash leaf spots\) are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. [HPO:probinson, PMID:10695583]
Phenotype Comment
While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:118575953 | rs2027934 | - | C>A | 43 | 28521 | 32.12 | 1.447e-08 | 2.382 |
| chr2:77501554 | rs10179301 | LRRTM4 | A>C | 50 | 35792 | 31.26 | 2.255e-08 | 2.231 |
| chr23:11812584 | rs858080 | - | T>C | 89 | 86824 | 29.28 | 6.266e-08 | 1.877 |
| chr13:101513230 | rs116972700 | - | G>A | 27 | 15109 | 29.21 | 6.507e-08 | 2.773 |
| chr1:116316239 | rs4839045 | - | A>G | 112 | 106934 | 28.21 | 1.088e-07 | 1.727 |
| chr1:213573311 | rs73099703 | - | T>C | 31 | 19193 | 27.41 | 1.647e-07 | 2.537 |
| chr16:86183078 | rs2030010 | - | A>G | 52 | 39546 | 27.13 | 1.9e-07 | 2.091 |
| chr4:166399268 | rs114662745 | CPE | A>C | 35 | 22936 | 26.76 | 2.301e-07 | 2.392 |
| chr4:117013834 | rs72683048 | - | A>C | 44 | 31653 | 26.68 | 2.407e-07 | 2.197 |
| chr18:71000704 | rs80168348 | - | C>T | 23 | 12840 | 25.66 | 4.077e-07 | 2.802 |
| chr15:98384280 | rs7183643 | - | A>G | 33 | 21536 | 25.44 | 4.562e-07 | 2.397 |
| chr9:12482831 | rs77034147 | - | A>G | 19 | 9795 | 24.64 | 6.904e-07 | 3.006 |
| chr13:110147580 | rs7323814 | - | G>C | 43 | 31408 | 24.48 | 7.508e-07 | 2.145 |
| chr22:42709334 | rs5758706 | TCF20 | C>T | 107 | 244100 | 24.2 | 8.693e-07 | 0.5973 |
| chr1:189587464 | rs7537538 | - | A>C | 43 | 31705 | 24.17 | 8.81e-07 | 2.135 |
| chr12:81410327 | rs6539543 | ACSS3 | G>A | 63 | 53101 | 23.88 | 1.023e-06 | 1.893 |
| chr12:81373808 | rs12811616 | ACSS3 | A>G | 64 | 54289 | 23.82 | 1.057e-06 | 1.883 |
| chr22:35463162 | rs361863 | ISX | G>A | 163 | 336824 | 23.43 | 1.299e-06 | 0.6468 |
| chr7:25815737 | rs1014201 | - | G>A | 41 | 30425 | 23.18 | 1.478e-06 | 2.139 |
| chr16:86216053 | rs276988 | - | C>T | 33 | 22420 | 23.04 | 1.587e-06 | 2.303 |
| chr15:98384280 | rs7183643 | - | A>G | 22 | 10342 | 36.57 | 1.475e-09 | 3.441 |
| chr13:101513230 | rs116972700 | - | G>A | 27 | 14812 | 32.55 | 1.163e-08 | 2.928 |
| chr1:189587464 | rs7537538 | - | A>C | 38 | 25549 | 29.94 | 4.465e-08 | 2.433 |
| chr4:166399268 | rs114662745 | CPE | A>C | 34 | 22115 | 28.92 | 7.559e-08 | 2.505 |
| chr18:7049171 | rs140718292 | LAMA1 | C>T | 21 | 11635 | 25.62 | 4.153e-07 | 2.926 |
| chr2:77501554 | rs10179301 | LRRTM4 | A>C | 33 | 22559 | 25.09 | 5.477e-07 | 2.388 |
| chr4:117013834 | rs72683048 | - | A>C | 41 | 30706 | 24.6 | 7.071e-07 | 2.19 |
| chr16:86216053 | rs276988 | - | C>T | 32 | 21713 | 24.57 | 7.17e-07 | 2.396 |
| chr2:99307175 | rs72825768 | MGAT4A | A>C | 23 | 13557 | 24.44 | 7.67e-07 | 2.744 |
| chr20:60419133 | rs13043874 | CDH4 | A>G | 19 | 10280 | 23.99 | 9.669e-07 | 2.971 |
| chr5:19067546 | rs13163797 | - | C>T | 83 | 79473 | 22.57 | 2.022e-06 | 1.744 |
| chr9:84005903 | rs76526776 | - | G>T | 40 | 30535 | 22.55 | 2.047e-06 | 2.138 |
| chr1:44248311 | rs4660748 | AL451062.4 | C>A | 33 | 23580 | 22.48 | 2.122e-06 | 2.286 |
| chr1:116316239 | rs4839045 | - | A>G | 92 | 91640 | 22.31 | 2.318e-06 | 1.7 |
| chr20:41386186 | rs78166616 | PTPRT | C>T | 18 | 9924 | 22.05 | 2.658e-06 | 2.925 |
| chr8:135184507 | rs7819267 | - | C>T | 121 | 127999 | 22.02 | 2.702e-06 | 1.608 |
| chr12:95931927 | rs78088929 | USP44 | C>T | 36 | 26617 | 22.0 | 2.723e-06 | 2.197 |
| chr1:161174357 | rs74915600 | NDUFS2 | A>G | 30 | 20797 | 21.95 | 2.801e-06 | 2.346 |
| chr5:19031043 | rs12514027 | - | C>T | 92 | 91933 | 21.6 | 3.364e-06 | 1.686 |
| chr16:86183078 | rs2030010 | - | A>G | 44 | 35261 | 21.45 | 3.632e-06 | 2.038 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 29 | 90 | 238.2 | 9.596e-54 | 13.29 |
| chr9:117110112 | Affx-52344420 | AKNA | T>TG | 20 | 52 | 191.8 | 1.283e-43 | 15.63 |
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 69 | 586 | 181.6 | 2.151e-41 | 5.093 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 23 | 86 | 157.9 | 3.255e-36 | 10.93 |
| chr8:116631902 | rs7823278 | TRPS1 | C>A | 16 | 42 | 152.8 | 4.314e-35 | 15.45 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 59 | 511 | 150.4 | 1.406e-34 | 4.923 |
| chr8:10557760 | rs57041981 | RP1L1 | A>G | 22 | 86 | 144.8 | 2.423e-33 | 10.46 |
| chr15:45556163 | rs8023604 | SLC28A2 | T>C | 17 | 51 | 144.3 | 3.012e-33 | 13.55 |
| chr15:45695612 | rs1346265 | SPATA5L1 | C>T | 15 | 42 | 135.0 | 3.324e-31 | 14.43 |
| chr15:28361764 | rs4778247 | HERC2 | T>C | 24 | 117 | 124.9 | 5.3e-29 | 8.393 |
| chr15:45491394 | rs1648299 | SHF | T>C | 21 | 91 | 123.8 | 9.18e-29 | 9.391 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 19 | 78 | 118.1 | 1.616e-27 | 9.862 |
| chr15:28380312 | rs6497280 | HERC2 | T>C | 23 | 116 | 115.0 | 7.737e-27 | 8.087 |
| chr1:173579034 | rs12065033 | AL139142.2 | C>T | 19 | 82 | 112.4 | 2.93e-26 | 9.397 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 24 | 132 | 109.1 | 1.571e-25 | 7.441 |
| chr3:188327555 | rs7645635 | LPP | T>C | 18 | 79 | 105.7 | 8.758e-25 | 9.305 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 22 | 115 | 105.5 | 9.388e-25 | 7.784 |
| chr12:56722060 | rs1918496 | PAN2 | G>T | 13 | 41 | 105.1 | 1.15e-24 | 12.79 |
| chr19:42391425 | rs28521795 | ARHGEF1 | G>A | 21 | 106 | 105.0 | 1.196e-24 | 8.068 |
| chr15:48392165 | rs1834640 | - | A>G | 32 | 230 | 104.9 | 1.301e-24 | 5.752 |
| chr15:98384280 | rs7183643 | - | A>G | 22 | 250 | 41.52 | 1.167e-10 | 3.875 |
| chr4:166399268 | rs114662745 | CPE | A>C | 34 | 564 | 31.87 | 1.645e-08 | 2.682 |
| chr13:101513230 | rs116972700 | - | G>A | 27 | 411 | 29.65 | 5.174e-08 | 2.882 |
| chr1:189587464 | rs7537538 | - | A>C | 38 | 699 | 28.21 | 1.091e-07 | 2.424 |
| chr20:60419133 | rs13043874 | CDH4 | A>G | 19 | 258 | 26.35 | 2.853e-07 | 3.228 |
| chr2:99307175 | rs72825768 | MGAT4A | A>C | 23 | 357 | 24.77 | 6.457e-07 | 2.841 |
| chr4:117013834 | rs72683048 | - | A>C | 41 | 840 | 23.27 | 1.41e-06 | 2.181 |
| chr1:116316239 | rs4839045 | - | A>G | 92 | 2464 | 22.82 | 1.78e-06 | 1.726 |
| chr8:135184507 | rs7819267 | - | C>T | 121 | 3441 | 22.8 | 1.801e-06 | 1.633 |
| chr8:49183719 | rs75700091 | - | G>T | 107 | 2985 | 22.0 | 2.72e-06 | 1.657 |
| chr12:95931927 | rs78088929 | USP44 | C>T | 36 | 714 | 21.95 | 2.805e-06 | 2.234 |
| chr2:77501554 | rs10179301 | LRRTM4 | A>C | 33 | 639 | 21.7 | 3.182e-06 | 2.297 |
| chr18:7049171 | rs140718292 | LAMA1 | C>T | 21 | 337 | 21.3 | 3.931e-06 | 2.754 |
| chr16:86216053 | rs276988 | - | C>T | 32 | 618 | 20.97 | 4.66e-06 | 2.293 |
| chr5:168148965 | rs35668605 | SLIT3 | C>T | 166 | 5204 | 20.58 | 5.732e-06 | 1.522 |
| chr16:51193047 | rs77214081 | - | A>G | 46 | 1023 | 20.52 | 5.906e-06 | 2.007 |
| chr20:41386186 | rs78166616 | PTPRT | C>T | 18 | 272 | 20.41 | 6.259e-06 | 2.903 |
| chr8:49194601 | rs4517148 | - | T>G | 62 | 1524 | 20.4 | 6.291e-06 | 1.839 |
| chr4:81257907 | rs1458026 | CFAP299 | G>A | 24 | 417 | 20.19 | 7.006e-06 | 2.532 |
| chr1:246819155 | rs34439865 | CNST | G>A | 111 | 3198 | 20.13 | 7.22e-06 | 1.611 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: A418 | Other specified septicaemia | 14/20 |
| ID | Name | Top Correlation |
|---|