Statistics
| Case | Control |
|---|---|
| 2455 | 457739 |
Phenotype Definition
An abnormality of macrophages. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr19:39575987 | rs544041 | ACP7 | G>A | 111 | 10386 | 50.74 | 1.055e-12 | 1.962 |
| chr1:210419650 | rs12088691 | SERTAD4 | A>C | 123 | 11922 | 50.27 | 1.338e-12 | 1.895 |
| chr17:47947919 | rs73337077 | - | C>T | 361 | 45732 | 49.3 | 2.191e-12 | 1.465 |
| chr15:45556163 | rs8023604 | SLC28A2 | T>C | 129 | 12782 | 49.19 | 2.321e-12 | 1.856 |
| chr12:56755058 | rs4301822 | APOF | A>G | 127 | 12485 | 48.95 | 2.63e-12 | 1.862 |
| chr3:188327555 | rs7645635 | LPP | T>C | 140 | 14236 | 48.62 | 3.112e-12 | 1.807 |
| chr6:38681447 | rs7774234 | - | T>C | 131 | 13235 | 46.91 | 7.416e-12 | 1.822 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 194 | 21749 | 46.75 | 8.077e-12 | 1.644 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 180 | 19830 | 46.62 | 8.628e-12 | 1.673 |
| chr19:42391425 | rs28521795 | ARHGEF1 | G>A | 171 | 18651 | 46.16 | 1.087e-11 | 1.69 |
| chr4:175428308 | rs2612657 | HPGD | T>C | 112 | 10936 | 44.63 | 2.376e-11 | 1.879 |
| chr3:7335320 | rs7631494 | GRM7 | C>T | 171 | 18838 | 44.23 | 2.914e-11 | 1.671 |
| chr16:1243194 | rs9926274 | CACNA1H | T>C | 116 | 11619 | 42.85 | 5.912e-11 | 1.837 |
| chr15:48392165 | rs1834640 | - | A>G | 257 | 31367 | 42.43 | 7.308e-11 | 1.515 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 229 | 27297 | 42.2 | 8.256e-11 | 1.548 |
| chr12:56722060 | rs1918496 | PAN2 | G>T | 114 | 11503 | 40.89 | 1.613e-10 | 1.821 |
| chr12:56593900 | rs10876877 | - | A>G | 96 | 9263 | 39.14 | 3.944e-10 | 1.891 |
| chr8:111176070 | rs11996078 | - | G>A | 153 | 16921 | 38.9 | 4.471e-10 | 1.663 |
| chr1:207782889 | rs17047661 | CR1 | A>G | 133 | 14186 | 38.89 | 4.482e-10 | 1.722 |
| chr10:65924376 | rs4390238 | - | G>T | 114 | 11761 | 37.71 | 8.211e-10 | 1.779 |
| chr6:31353171 | rs2844531 | - | A>G | 811 | 129251 | 23.37 | 1.339e-06 | 1.205 |
| chr4:123949389 | rs35343500 | SPATA5 | G>C | 122 | 14835 | 22.85 | 1.755e-06 | 1.547 |
| chr6:31312326 | rs3134792 | HLA-B | T>G | 824 | 131768 | 22.62 | 1.974e-06 | 1.2 |
| chr6:31434621 | rs3131618 | - | A>G | 804 | 128531 | 22.08 | 2.617e-06 | 1.199 |
| chr6:118210569 | rs118055147 | - | A>C | 111 | 13321 | 21.9 | 2.876e-06 | 1.564 |
| chr19:54481150 | rs11084307 | CACNG8 | T>C | 1810 | 308911 | 21.9 | 2.869e-06 | 1.149 |
| chr6:31306420 | rs1625792 | HLA-B | G>A | 803 | 128841 | 21.62 | 3.316e-06 | 1.197 |
| chr13:52311256 | rs117341248 | WDFY2 | C>T | 158 | 20471 | 21.54 | 3.47e-06 | 1.454 |
| chr2:220107997 | rs147143842 | GLB1L | G>A | 94 | 10919 | 21.53 | 3.48e-06 | 1.617 |
| chr6:31346621 | rs2442736 | - | G>C | 1271 | 211718 | 21.0 | 4.591e-06 | 1.161 |
| chr13:106288120 | rs79452140 | - | C>T | 81 | 9137 | 20.92 | 4.788e-06 | 1.664 |
| chr6:31172151 | rs3132510 | - | T>C | 775 | 124030 | 20.9 | 4.831e-06 | 1.196 |
| chr6:31340075 | rs2844559 | - | C>T | 830 | 133681 | 20.87 | 4.924e-06 | 1.19 |
| chr1:179750510 | rs10913886 | FAM163A | C>T | 2181 | 436726 | 20.55 | 5.806e-06 | 0.8775 |
| chr6:31430694 | rs3094605 | - | G>C | 803 | 129127 | 20.4 | 6.268e-06 | 1.191 |
| chr6:31434366 | rs3094013 | - | G>A | 803 | 129163 | 20.35 | 6.454e-06 | 1.191 |
| chr6:43886159 | rs721640 | - | G>A | 1488 | 250793 | 20.17 | 7.101e-06 | 1.15 |
| chr22:36543489 | rs3788518 | APOL3 | G>C | 851 | 180077 | 20.01 | 7.708e-06 | 0.8438 |
| chr7:69993848 | rs117581777 | AUTS2 | G>A | 116 | 14420 | 19.77 | 8.731e-06 | 1.517 |
| chr3:191723630 | rs79299428 | - | G>A | 218 | 30211 | 19.75 | 8.847e-06 | 1.36 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 229 | 2467 | 48.59 | 3.153e-12 | 1.628 |
| chr15:48392165 | rs1834640 | - | A>G | 257 | 2886 | 45.74 | 1.353e-11 | 1.564 |
| chr6:38681447 | rs7774234 | - | T>C | 131 | 1235 | 45.52 | 1.51e-11 | 1.855 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 194 | 2051 | 44.3 | 2.818e-11 | 1.655 |
| chr19:42391425 | rs28521795 | ARHGEF1 | G>A | 171 | 1761 | 43.38 | 4.512e-11 | 1.699 |
| chr17:47947919 | rs73337077 | - | C>T | 361 | 4384 | 43.32 | 4.659e-11 | 1.449 |
| chr19:39575987 | rs544041 | ACP7 | G>A | 111 | 1006 | 43.28 | 4.738e-11 | 1.921 |
| chr1:210419650 | rs12088691 | SERTAD4 | A>C | 123 | 1154 | 42.97 | 5.546e-11 | 1.857 |
| chr19:42392441 | rs16975619 | ARHGEF1 | T>C | 180 | 1882 | 42.95 | 5.629e-11 | 1.672 |
| chr12:56755058 | rs4301822 | APOF | A>G | 127 | 1213 | 41.3 | 1.304e-10 | 1.818 |
| chr3:188327555 | rs7645635 | LPP | T>C | 140 | 1397 | 39.49 | 3.297e-10 | 1.746 |
| chr15:45556163 | rs8023604 | SLC28A2 | T>C | 129 | 1264 | 39.08 | 4.066e-10 | 1.78 |
| chr16:1243194 | rs9926274 | CACNA1H | T>C | 116 | 1116 | 37.61 | 8.654e-10 | 1.815 |
| chr23:102522244 | rs61558955 | - | G>T | 197 | 2248 | 35.61 | 2.411e-09 | 1.569 |
| chr1:207782889 | rs17047661 | CR1 | A>G | 133 | 1351 | 35.28 | 2.859e-09 | 1.716 |
| chr18:33590953 | rs28483854 | RPRD1A | T>C | 382 | 4876 | 34.13 | 5.145e-09 | 1.378 |
| chr8:111176070 | rs11996078 | - | G>A | 153 | 1629 | 33.84 | 5.996e-09 | 1.639 |
| chr5:147863034 | rs9325101 | HTR4 | A>G | 149 | 1576 | 33.74 | 6.303e-09 | 1.648 |
| chr4:175428308 | rs2612657 | HPGD | T>C | 112 | 1099 | 33.57 | 6.878e-09 | 1.773 |
| chr23:128718936 | rs2362937 | OCRL | T>C | 166 | 1846 | 33.23 | 8.198e-09 | 1.604 |
| chr6:31353171 | rs2844531 | - | A>G | 811 | 12084 | 26.33 | 2.877e-07 | 1.225 |
| chr6:31312326 | rs3134792 | HLA-B | T>G | 824 | 12330 | 25.29 | 4.931e-07 | 1.219 |
| chr13:106288120 | rs79452140 | - | C>T | 81 | 808 | 25.07 | 5.535e-07 | 1.786 |
| chr6:31434621 | rs3131618 | - | A>G | 804 | 12038 | 24.44 | 7.656e-07 | 1.217 |
| chr6:31306420 | rs1625792 | HLA-B | G>A | 803 | 12055 | 24.38 | 7.889e-07 | 1.217 |
| chr6:31340075 | rs2844559 | - | C>T | 830 | 12486 | 24.08 | 9.234e-07 | 1.212 |
| chr6:31172151 | rs3132510 | - | T>C | 775 | 11600 | 23.54 | 1.225e-06 | 1.216 |
| chr4:123949389 | rs35343500 | SPATA5 | G>C | 122 | 1381 | 23.12 | 1.526e-06 | 1.577 |
| chr6:31430694 | rs3094605 | - | G>C | 803 | 12084 | 22.96 | 1.65e-06 | 1.21 |
| chr6:31434366 | rs3094013 | - | G>A | 803 | 12094 | 22.76 | 1.837e-06 | 1.209 |
| chr19:54481150 | rs11084307 | CACNG8 | T>C | 1810 | 29267 | 21.59 | 3.375e-06 | 1.152 |
| chr6:118210569 | rs118055147 | - | A>C | 111 | 1255 | 20.94 | 4.734e-06 | 1.575 |
| chr6:31094703 | rs3130557 | PSORS1C1 | C>T | 854 | 12992 | 20.85 | 4.967e-06 | 1.194 |
| chr6:31346621 | rs2442736 | - | G>C | 1271 | 20028 | 20.76 | 5.211e-06 | 1.165 |
| chr2:220107997 | rs147143842 | GLB1L | G>A | 94 | 1026 | 20.74 | 5.256e-06 | 1.633 |
| chr6:31345376 | rs2442744 | - | C>T | 1923 | 31228 | 20.62 | 5.607e-06 | 1.146 |
| chr22:36543489 | rs3788518 | APOL3 | G>C | 851 | 17175 | 20.58 | 5.725e-06 | 0.8385 |
| chr6:31331829 | rs2523554 | - | T>C | 2133 | 34900 | 20.54 | 5.853e-06 | 1.144 |
| chr1:179750510 | rs10913886 | FAM163A | C>T | 2181 | 41498 | 20.37 | 6.39e-06 | 0.8752 |
| chr6:5394016 | rs74967539 | FARS2 | G>A | 256 | 3423 | 20.35 | 6.45e-06 | 1.349 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: D868 | Sarcoidosis of other and combined sites | 10/20 |
| ICD: D869 | Sarcoidosis, unspecified | 12/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: K350 | Acute appendicitis with generalised peritonitis | 0/20 |
| ICD-10: M313 | Wegener's granulomatosis | 0/20 |
| ICD-10: M950 | Acquired deformity of nose | 0/20 |