Statistics
| Case | Control |
|---|---|
| 2221 | 457973 |
Phenotype Definition
Nystagmus consisting of horizontal to-and-fro eye movements. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr6:46979403 | rs1226478 | ADGRF1 | T>C | 102 | 12475 | 26.75 | 2.313e-07 | 1.672 |
| chr17:49555033 | rs8074148 | - | A>G | 327 | 50487 | 25.38 | 4.702e-07 | 1.335 |
| chr11:24832715 | rs12294826 | LUZP2 | C>A | 199 | 28557 | 24.61 | 7.002e-07 | 1.431 |
| chr9:24740388 | rs7859091 | - | T>C | 288 | 44048 | 23.13 | 1.516e-06 | 1.34 |
| chr10:98742043 | rs112594620 | LCOR | A>G | 155 | 21602 | 22.51 | 2.091e-06 | 1.472 |
| chr3:3130645 | rs3804795 | IL5RA | T>C | 520 | 86435 | 22.47 | 2.138e-06 | 1.247 |
| chr5:166433401 | rs12653630 | - | C>T | 237 | 35602 | 22.2 | 2.46e-06 | 1.368 |
| chr11:113089249 | rs662912 | NCAM1 | A>G | 2308 | 435120 | 21.94 | 2.811e-06 | 1.146 |
| chr4:100433959 | rs114987323 | C4orf17 | A>G | 96 | 12194 | 21.81 | 3.016e-06 | 1.614 |
| chr17:49597802 | rs7210136 | - | C>T | 421 | 68802 | 20.84 | 5.004e-06 | 1.263 |
| chr21:20630061 | rs2407029 | - | C>T | 1638 | 302923 | 20.81 | 5.073e-06 | 1.149 |
| chr10:130068724 | rs12265747 | - | A>C | 1291 | 232858 | 20.47 | 6.069e-06 | 1.16 |
| chr6:155334087 | rs73001053 | TIAM2 | G>T | 517 | 86717 | 20.39 | 6.325e-06 | 1.234 |
| chr7:86146388 | rs117801943 | - | C>T | 94 | 12092 | 20.04 | 7.59e-06 | 1.59 |
| chr1:186632317 | rs10911902 | - | C>T | 804 | 187821 | 20.01 | 7.719e-06 | 0.8411 |
| chr1:84584943 | rs79256887 | PRKACB | A>G | 168 | 24242 | 19.96 | 7.899e-06 | 1.42 |
| chr16:30455458 | rs1133238 | SEPHS2 | G>A | 347 | 55832 | 19.96 | 7.893e-06 | 1.283 |
| chr6:46976812 | rs1226475 | ADGRF1 | T>C | 104 | 13684 | 19.91 | 8.099e-06 | 1.554 |
| chr6:46977458 | rs937057 | ADGRF1 | T>C | 104 | 13696 | 19.76 | 8.777e-06 | 1.551 |
| chr13:103288290 | rs61965651 | TPP2 | G>A | 160 | 22898 | 19.74 | 8.862e-06 | 1.429 |
| chr4:100433959 | rs114987323 | C4orf17 | A>G | 96 | 11898 | 25.66 | 4.079e-07 | 1.681 |
| chr11:113089249 | rs662912 | NCAM1 | A>G | 2126 | 404358 | 24.63 | 6.945e-07 | 1.162 |
| chr2:209436386 | rs10497902 | PTH2R | T>C | 633 | 155178 | 22.92 | 1.69e-06 | 0.8142 |
| chr21:20630061 | rs2407029 | - | C>T | 1536 | 286535 | 22.78 | 1.813e-06 | 1.163 |
| chr1:84584943 | rs79256887 | PRKACB | A>G | 166 | 23879 | 22.17 | 2.49e-06 | 1.45 |
| chr7:12340037 | rs117090118 | - | T>C | 145 | 20534 | 21.03 | 4.516e-06 | 1.471 |
| chr13:103288290 | rs61965651 | TPP2 | G>A | 156 | 22430 | 20.67 | 5.445e-06 | 1.447 |
| chr1:97668984 | rs75392002 | DPYD | C>T | 91 | 11705 | 20.62 | 5.592e-06 | 1.613 |
| chr11:43560396 | rs995035 | - | G>A | 438 | 73238 | 20.5 | 5.958e-06 | 1.256 |
| chr18:30411521 | rs75420195 | - | G>C | 186 | 27695 | 20.42 | 6.211e-06 | 1.402 |
| chr2:209338999 | Affx-18921230 | PTH2R | CA>C | 227 | 62387 | 20.27 | 6.728e-06 | 0.7363 |
| chr13:40774867 | rs4941961 | - | G>T | 502 | 124558 | 19.97 | 7.877e-06 | 0.809 |
| chr1:84372060 | rs41301084 | TTLL7 | G>A | 159 | 23294 | 19.43 | 1.043e-05 | 1.427 |
| chr23:107209932 | rs139263000 | - | A>G | 117 | 18300 | 18.97 | 1.33e-05 | 1.505 |
| chr14:51947546 | rs17123971 | - | A>G | 217 | 33494 | 18.94 | 1.352e-05 | 1.354 |
| chr18:44016974 | rs73953849 | RNF165 | C>T | 62 | 21849 | 18.64 | 1.583e-05 | 0.5792 |
| chr1:186632317 | rs10911902 | - | C>T | 763 | 180900 | 18.57 | 1.64e-05 | 0.8423 |
| chr3:3130645 | rs3804795 | IL5RA | T>C | 461 | 78500 | 18.4 | 1.795e-05 | 1.235 |
| chr11:24832715 | rs12294826 | LUZP2 | C>A | 160 | 23636 | 18.34 | 1.846e-05 | 1.411 |
| chr1:186643058 | rs5275 | PTGS2 | A>G | 1390 | 314399 | 18.29 | 1.901e-05 | 0.8704 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:43560396 | rs995035 | - | G>A | 438 | 1298 | 27.62 | 1.474e-07 | 1.355 |
| chr19:40348327 | rs73042770 | - | C>T | 174 | 434 | 26.33 | 2.874e-07 | 1.592 |
| chr2:178417142 | rs11694988 | AGPS | T>C | 744 | 2410 | 24.56 | 7.209e-07 | 1.255 |
| chr11:40975759 | rs75320297 | LRRC4C | T>G | 162 | 409 | 23.51 | 1.245e-06 | 1.575 |
| chr11:113089249 | rs662912 | NCAM1 | A>G | 2126 | 7636 | 23.22 | 1.442e-06 | 1.177 |
| chr1:84584943 | rs79256887 | PRKACB | A>G | 166 | 424 | 22.89 | 1.712e-06 | 1.556 |
| chr1:97668984 | rs75392002 | DPYD | C>T | 91 | 202 | 21.15 | 4.255e-06 | 1.782 |
| chr13:86194437 | rs180918412 | - | T>C | 110 | 258 | 21.01 | 4.562e-06 | 1.686 |
| chr7:12340037 | rs117090118 | - | T>C | 145 | 367 | 20.78 | 5.156e-06 | 1.569 |
| chr17:49555033 | rs8074148 | - | A>G | 264 | 755 | 20.47 | 6.048e-06 | 1.393 |
| chr20:17505226 | rs2072958 | BFSP1 | C>T | 1982 | 7130 | 20.05 | 7.561e-06 | 1.164 |
| chr1:217739036 | rs2042525 | GPATCH2 | T>C | 941 | 4248 | 19.92 | 8.079e-06 | 0.8338 |
| chr1:84372060 | rs41301084 | TTLL7 | G>A | 159 | 417 | 19.62 | 9.469e-06 | 1.517 |
| chr16:8597994 | rs117215397 | TMEM114 | C>A | 112 | 270 | 19.49 | 1.011e-05 | 1.644 |
| chr12:46930820 | rs11183521 | - | T>C | 816 | 2724 | 19.37 | 1.078e-05 | 1.213 |
| chr18:6728204 | rs7505419 | - | C>A | 1569 | 5546 | 19.29 | 1.123e-05 | 1.168 |
| chr16:84349609 | rs116866885 | WFDC1 | C>T | 161 | 425 | 19.23 | 1.158e-05 | 1.507 |
| chr6:24456074 | rs112939612 | GPLD1 | A>C | 235 | 668 | 19.05 | 1.274e-05 | 1.402 |
| chr2:178407176 | rs10803912 | AGPS | A>C | 795 | 2650 | 18.87 | 1.401e-05 | 1.213 |
| chr7:8075387 | rs111304183 | GLCCI1 | G>A | 171 | 458 | 18.72 | 1.514e-05 | 1.481 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H358 | Other specified retinal disorders | 2/20 |
| ICD: H544 | Blindness, one eye | 3/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: J61 | Pneumoconiosis due to asbestos and other mineral fibres | 0/20 |
| ICD-10: R066 | Hiccough | 0/20 |
| ICD-10: R278 | Other and unspecified lack of coordination | 0/20 |