Statistics
| Case | Control |
|---|---|
| 79247 | 380947 |
Phenotype Definition
A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [HPO:probinson]
Phenotype Comment
The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr10:21824727 | rs10828249 | MLLT10 | G>A | 58752 | 275160 | 45.34 | 1.656e-11 | 1.039 |
| chr10:21834536 | rs7098100 | MLLT10 | G>A | 58170 | 272432 | 44.1 | 3.123e-11 | 1.038 |
| chr10:21957229 | rs2183271 | MLLT10 | T>C | 60789 | 285176 | 41.35 | 1.273e-10 | 1.037 |
| chr6:29818662 | rs2734985 | - | T>C | 44647 | 208532 | 36.83 | 1.291e-09 | 1.038 |
| chr6:29818744 | rs2517870 | - | C>A | 44654 | 208579 | 36.11 | 1.861e-09 | 1.037 |
| chr10:21889083 | rs12356674 | MLLT10 | G>T | 47677 | 223159 | 34.52 | 4.22e-09 | 1.036 |
| chr6:29819599 | rs9258593 | - | T>C | 43278 | 202270 | 33.76 | 6.22e-09 | 1.036 |
| chr6:29821896 | rs2734980 | - | G>A | 44879 | 209912 | 33.25 | 8.102e-09 | 1.036 |
| chr6:29820389 | rs5013088 | - | T>C | 44883 | 210055 | 33.05 | 8.997e-09 | 1.036 |
| chr6:29820831 | rs2734984 | - | T>C | 44694 | 209073 | 33.0 | 9.227e-09 | 1.036 |
| chr10:22037809 | rs6482190 | - | G>A | 43789 | 204802 | 31.92 | 1.605e-08 | 1.036 |
| chr11:113334227 | rs34632468 | DRD2 | CT>C | 61130 | 299228 | 30.59 | 3.187e-08 | 0.9697 |
| chr13:58644612 | rs7338584 | - | T>G | 40077 | 187376 | 30.4 | 3.508e-08 | 1.035 |
| chr6:30121460 | rs2022065 | TRIM10 | C>T | 48018 | 235940 | 30.26 | 3.786e-08 | 0.9679 |
| chr2:22541141 | rs12478745 | - | G>A | 72311 | 353105 | 30.21 | 3.875e-08 | 0.9707 |
| chr2:22431110 | rs1554268 | - | T>C | 68818 | 336270 | 30.05 | 4.213e-08 | 0.9706 |
| chr6:29821982 | rs2517861 | - | C>T | 44996 | 210854 | 29.6 | 5.302e-08 | 1.034 |
| chr6:29286670 | rs3129683 | - | C>G | 29493 | 137160 | 29.48 | 5.658e-08 | 1.039 |
| chr13:58483198 | rs12430897 | - | G>A | 38816 | 181448 | 29.28 | 6.269e-08 | 1.035 |
| chr11:113364691 | rs17602038 | - | T>C | 61198 | 299393 | 29.22 | 6.46e-08 | 0.9704 |
| chr10:21824727 | rs10828249 | MLLT10 | G>A | 55537 | 260365 | 44.1 | 3.12e-11 | 1.039 |
| chr10:21957229 | rs2183271 | MLLT10 | T>C | 57144 | 268120 | 42.39 | 7.463e-11 | 1.038 |
| chr10:21834536 | rs7098100 | MLLT10 | G>A | 54726 | 256642 | 41.58 | 1.134e-10 | 1.038 |
| chr11:113334227 | rs34632468 | DRD2 | CT>C | 58896 | 289195 | 35.26 | 2.892e-09 | 0.9666 |
| chr2:22515568 | rs12373752 | - | A>G | 75587 | 357310 | 34.36 | 4.58e-09 | 1.033 |
| chr10:21889083 | rs12356674 | MLLT10 | G>T | 46121 | 216130 | 34.24 | 4.874e-09 | 1.036 |
| chr11:113364691 | rs17602038 | - | T>C | 58974 | 289439 | 34.23 | 4.905e-09 | 0.9671 |
| chr2:22541141 | rs12478745 | - | G>A | 70192 | 343548 | 33.53 | 7.025e-09 | 0.9683 |
| chr2:22431110 | rs1554268 | - | T>C | 66767 | 326956 | 32.56 | 1.156e-08 | 0.9686 |
| chr11:113364647 | rs4245150 | - | T>G | 59017 | 289568 | 32.23 | 1.37e-08 | 0.9681 |
| chr10:22037809 | rs6482190 | - | G>A | 42293 | 198019 | 31.95 | 1.585e-08 | 1.036 |
| chr6:29818662 | rs2734985 | - | T>C | 42433 | 198694 | 31.85 | 1.661e-08 | 1.036 |
| chr6:29818744 | rs2517870 | - | C>A | 42435 | 198750 | 31.19 | 2.345e-08 | 1.035 |
| chr6:29819599 | rs9258593 | - | T>C | 41368 | 193788 | 30.4 | 3.522e-08 | 1.035 |
| chr6:29821896 | rs2734980 | - | G>A | 42647 | 199945 | 29.25 | 6.376e-08 | 1.034 |
| chr13:58644612 | rs7338584 | - | T>G | 38604 | 180794 | 28.92 | 7.55e-08 | 1.035 |
| chr6:29820389 | rs5013088 | - | T>C | 42649 | 200098 | 28.84 | 7.877e-08 | 1.034 |
| chr6:28415572 | rs13215804 | - | A>G | 58297 | 274914 | 28.47 | 9.533e-08 | 1.031 |
| chr6:29820831 | rs2734984 | - | T>C | 42471 | 199213 | 28.44 | 9.673e-08 | 1.034 |
| chr6:28411244 | rs13190937 | ZSCAN23 | G>A | 58363 | 275128 | 28.31 | 1.033e-07 | 1.031 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:47388375 | rs55766414 | - | G>A | 2991 | 3151 | 26.32 | 2.9e-07 | 1.141 |
| chr1:68741454 | rs11209246 | - | G>A | 43700 | 50963 | 26.03 | 3.354e-07 | 1.039 |
| chr2:22431110 | rs1554268 | - | T>C | 68818 | 84174 | 24.12 | 9.073e-07 | 0.9676 |
| chr1:44289397 | rs37459 | AL451062.4 | A>G | 56673 | 69484 | 23.48 | 1.265e-06 | 0.9668 |
| chr1:44290530 | rs37458 | AL451062.4 | A>G | 56543 | 69359 | 23.32 | 1.374e-06 | 0.9668 |
| chr6:162426756 | rs9347576 | PRKN | T>C | 3505 | 3759 | 23.25 | 1.42e-06 | 1.121 |
| chr16:7357171 | rs4331351 | RBFOX1 | T>C | 8665 | 9708 | 22.27 | 2.372e-06 | 1.074 |
| chr14:49773897 | rs11626795 | - | A>G | 79784 | 97256 | 21.84 | 2.969e-06 | 0.9696 |
| chr13:80568497 | rs73236809 | - | C>T | 4352 | 5727 | 21.82 | 2.987e-06 | 0.9092 |
| chr5:2413082 | rs313586 | - | T>C | 66360 | 78083 | 21.69 | 3.21e-06 | 1.032 |
| chr1:44249344 | rs12760274 | AL451062.4 | A>G | 51409 | 63089 | 21.31 | 3.901e-06 | 0.9675 |
| chr11:84130767 | rs11234023 | DLG2 | A>G | 13283 | 15106 | 21.16 | 4.232e-06 | 1.059 |
| chr20:20058992 | rs6136938 | CFAP61 | G>A | 67833 | 82819 | 21.14 | 4.261e-06 | 0.9691 |
| chr2:22541141 | rs12478745 | - | G>A | 72311 | 88265 | 20.96 | 4.691e-06 | 0.9699 |
| chr5:1282319 | rs7726159 | TERT | C>A | 55621 | 65298 | 20.94 | 4.732e-06 | 1.033 |
| chr9:127194892 | rs4836979 | - | A>C | 3419 | 3684 | 20.81 | 5.071e-06 | 1.116 |
| chr6:30080994 | rs9261424 | - | G>C | 47697 | 58582 | 20.49 | 6.007e-06 | 0.9675 |
| chr6:30089280 | rs9261438 | - | C>T | 48390 | 59384 | 20.31 | 6.583e-06 | 0.9677 |
| chr1:209800230 | rs2076349 | LAMB3 | C>T | 6470 | 7200 | 19.96 | 7.905e-06 | 1.081 |
| chr2:220385450 | rs72969423 | ASIC4 | A>C | 36701 | 45237 | 19.74 | 8.879e-06 | 0.9652 |
| chr1:68741454 | rs11209246 | - | G>A | 41383 | 48471 | 24.03 | 9.472e-07 | 1.039 |
| chr5:1282319 | rs7726159 | TERT | C>A | 52475 | 61722 | 23.52 | 1.238e-06 | 1.036 |
| chr16:7357171 | rs4331351 | RBFOX1 | T>C | 6130 | 6812 | 21.47 | 3.593e-06 | 1.087 |
| chr6:162426756 | rs9347576 | PRKN | T>C | 2629 | 2796 | 21.3 | 3.936e-06 | 1.135 |
| chr9:123349796 | rs10760105 | - | T>C | 51503 | 63385 | 20.25 | 6.79e-06 | 0.9679 |
| chr13:80568497 | rs73236809 | - | C>T | 4254 | 5602 | 19.92 | 8.079e-06 | 0.9121 |
| chr5:2413082 | rs313586 | - | T>C | 60839 | 71858 | 19.87 | 8.288e-06 | 1.032 |
| chr1:44289397 | rs37459 | AL451062.4 | A>G | 54930 | 67491 | 19.64 | 9.343e-06 | 0.9689 |
| chr2:22431110 | rs1554268 | - | T>C | 66767 | 81836 | 19.62 | 9.471e-06 | 0.97 |
| chr22:45635216 | rs2138149 | KIAA0930 | T>C | 47262 | 58245 | 19.45 | 1.033e-05 | 0.9678 |
| chr19:1705197 | rs56029724 | - | A>G | 3303 | 3583 | 18.91 | 1.367e-05 | 1.112 |
| chr4:143463074 | rs13102643 | INPP4B | C>T | 11436 | 14511 | 18.86 | 1.404e-05 | 0.9451 |
| chr2:151164771 | rs1441970 | - | C>T | 6180 | 7995 | 18.74 | 1.497e-05 | 0.9279 |
| chr1:44290530 | rs37458 | AL451062.4 | A>G | 54174 | 66609 | 18.68 | 1.547e-05 | 0.9694 |
| chr3:81369946 | rs111753090 | - | T>C | 9924 | 12639 | 18.65 | 1.57e-05 | 0.9419 |
| chr23:110078894 | rs148091104 | - | C>T | 3689 | 4051 | 18.45 | 1.741e-05 | 1.104 |
| chr1:210780547 | rs4245754 | HHAT | C>T | 13697 | 15723 | 18.42 | 1.774e-05 | 1.054 |
| chr14:49773897 | rs11626795 | - | A>G | 77285 | 94459 | 18.38 | 1.809e-05 | 0.9712 |
| chr2:22541141 | rs12478745 | - | G>A | 70192 | 85917 | 18.29 | 1.901e-05 | 0.9712 |
| chr6:31137632 | rs9263810 | POU5F1 | G>C | 25998 | 32331 | 18.24 | 1.949e-05 | 0.9618 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|