Abnormality of peripheral nervous system electrophysiology
0030177
Normal Case/Contol ⓘ
Sibling Case/Control ⓘ
Statistics
| Case | Control |
|---|---|
| 3920 | 456274 |
Phenotype Definition
An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. []
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr21:25105211 | rs2828478 | - | G>A | 2823 | 351231 | 22.68 | 1.914e-06 | 0.8952 |
| chr1:230904935 | rs28359647 | CAPN9 | G>A | 190 | 15614 | 22.6 | 1.993e-06 | 1.418 |
| chr11:90888592 | rs117409848 | - | T>C | 290 | 25500 | 22.34 | 2.289e-06 | 1.327 |
| chr5:72585924 | rs73762038 | - | C>T | 677 | 66005 | 21.5 | 3.535e-06 | 1.205 |
| chr4:123764234 | rs75545880 | FGF2 | A>G | 190 | 15804 | 21.08 | 4.398e-06 | 1.401 |
| chr21:25100718 | rs2828468 | - | A>G | 4260 | 469807 | 20.48 | 6.025e-06 | 1.105 |
| chr1:208711001 | rs12752047 | - | C>T | 3119 | 384554 | 20.47 | 6.05e-06 | 0.9023 |
| chr15:23060998 | rs74003090 | NIPA1 | G>A | 183 | 15237 | 20.14 | 7.182e-06 | 1.399 |
| chr7:87102772 | rs45605336 | ABCB4 | G>A | 342 | 31180 | 19.95 | 7.948e-06 | 1.281 |
| chr21:23719770 | rs2827429 | - | A>G | 172 | 27766 | 19.69 | 9.108e-06 | 0.7108 |
| chr4:62304735 | rs6813503 | ADGRL3 | T>C | 1940 | 205804 | 18.86 | 1.405e-05 | 1.12 |
| chr16:57843440 | rs77244197 | KIFC3 | G>A | 1029 | 104843 | 18.84 | 1.425e-05 | 1.156 |
| chr9:113954013 | rs17207389 | - | T>C | 3596 | 393649 | 18.68 | 1.543e-05 | 1.101 |
| chr7:151506444 | rs117512824 | PRKAG2 | G>A | 212 | 18351 | 18.31 | 1.875e-05 | 1.348 |
| chr14:21318391 | rs8011569 | - | G>A | 1580 | 165927 | 18.18 | 2.005e-05 | 1.127 |
| chr1:208718672 | rs1891196 | - | A>G | 3387 | 415277 | 18.11 | 2.088e-05 | 0.9091 |
| chr14:32519158 | rs1279007 | - | A>C | 2495 | 268484 | 18.11 | 2.086e-05 | 1.108 |
| chr5:25902342 | rs10038113 | - | T>C | 3602 | 395083 | 17.92 | 2.299e-05 | 1.099 |
| chr23:131050878 | rs202746 | - | T>G | 1758 | 202451 | 17.7 | 2.588e-05 | 1.128 |
| chr7:133602230 | rs75286006 | EXOC4 | G>A | 235 | 35564 | 17.59 | 2.74e-05 | 0.7576 |
| chr1:230904935 | rs28359647 | CAPN9 | G>A | 185 | 15205 | 22.7 | 1.896e-06 | 1.426 |
| chr11:90888592 | rs117409848 | - | T>C | 286 | 25249 | 22.27 | 2.371e-06 | 1.33 |
| chr21:25100718 | rs2828468 | - | A>G | 3914 | 432019 | 22.15 | 2.528e-06 | 1.113 |
| chr21:25105211 | rs2828478 | - | G>A | 2739 | 341689 | 20.89 | 4.861e-06 | 0.8968 |
| chr1:208711001 | rs12752047 | - | C>T | 3006 | 372991 | 20.79 | 5.114e-06 | 0.899 |
| chr4:123764234 | rs75545880 | FGF2 | A>G | 186 | 15581 | 20.45 | 6.127e-06 | 1.399 |
| chr10:94746240 | rs11187236 | EXOC6 | G>A | 1369 | 142614 | 19.77 | 8.712e-06 | 1.142 |
| chr23:115853187 | rs12687590 | - | A>C | 918 | 101260 | 19.68 | 9.143e-06 | 1.174 |
| chr23:152482796 | rs2008144 | MAGEA1 | C>T | 344 | 34502 | 19.47 | 1.023e-05 | 1.279 |
| chr21:23719770 | rs2827429 | - | A>G | 168 | 27220 | 19.06 | 1.267e-05 | 0.7118 |
| chr23:47483479 | rs8177084 | CFP | G>A | 470 | 48961 | 18.97 | 1.329e-05 | 1.234 |
| chr1:72959039 | rs61771799 | - | G>A | 1787 | 226749 | 18.49 | 1.709e-05 | 0.8903 |
| chr7:87102772 | rs45605336 | ABCB4 | G>A | 333 | 30720 | 18.42 | 1.773e-05 | 1.273 |
| chr16:57843440 | rs77244197 | KIFC3 | G>A | 971 | 99312 | 18.23 | 1.953e-05 | 1.158 |
| chr1:208718672 | rs1891196 | - | A>G | 3206 | 395641 | 18.14 | 2.056e-05 | 0.9063 |
| chr10:54624102 | rs76579874 | - | T>G | 250 | 37869 | 18.14 | 2.055e-05 | 0.7605 |
| chr7:75518020 | Affx-30884762 | RHBDD2 | G>A | 2444 | 263187 | 18.07 | 2.125e-05 | 1.11 |
| chr23:131050878 | rs202746 | - | T>G | 1624 | 187872 | 17.84 | 2.405e-05 | 1.133 |
| chr8:98483265 | rs1478948 | - | A>G | 432 | 41257 | 17.74 | 2.538e-05 | 1.233 |
| chr14:32519158 | rs1279007 | - | A>C | 2389 | 258426 | 17.58 | 2.75e-05 | 1.109 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr21:25100718 | rs2828468 | - | A>G | 3914 | 5504 | 25.55 | 4.301e-07 | 1.16 |
| chr11:91945888 | rs7110069 | - | T>C | 1529 | 2001 | 21.93 | 2.826e-06 | 1.192 |
| chr1:200511522 | rs72745026 | - | G>T | 322 | 661 | 21.35 | 3.817e-06 | 0.7259 |
| chr2:64779509 | rs3770740 | AFTPH | G>A | 29 | 9 | 21.2 | 4.147e-06 | 4.889 |
| chr12:54572119 | rs7300912 | SMUG1 | C>A | 3617 | 5082 | 20.75 | 5.222e-06 | 1.143 |
| chr13:94205035 | rs72641636 | GPC6 | C>T | 250 | 255 | 20.31 | 6.591e-06 | 1.498 |
| chr1:25222945 | rs9438874 | - | G>A | 646 | 1202 | 19.83 | 8.475e-06 | 0.7967 |
| chr8:112490391 | rs62520409 | - | T>A | 720 | 881 | 19.49 | 1.011e-05 | 1.26 |
| chr10:54624102 | rs76579874 | - | T>G | 250 | 526 | 19.26 | 1.138e-05 | 0.7104 |
| chr11:113873554 | rs28441376 | - | C>T | 238 | 244 | 19.02 | 1.292e-05 | 1.492 |
| chr11:29023028 | rs982286 | - | C>A | 2179 | 2963 | 18.96 | 1.332e-05 | 1.154 |
| chr4:85190409 | rs1495139 | - | C>T | 3588 | 5068 | 18.92 | 1.365e-05 | 1.136 |
| chr1:80238120 | rs76406378 | - | G>A | 192 | 188 | 18.62 | 1.597e-05 | 1.559 |
| chr1:214466932 | rs7544984 | SMYD2 | G>A | 3245 | 5249 | 18.52 | 1.682e-05 | 0.8791 |
| chr6:74387232 | rs57756382 | - | C>T | 278 | 297 | 18.31 | 1.878e-05 | 1.435 |
| chr1:57657613 | rs72672685 | DAB1 | G>A | 737 | 911 | 18.3 | 1.89e-05 | 1.248 |
| chr2:224541473 | rs10172774 | - | C>T | 2708 | 3749 | 18.19 | 2.002e-05 | 1.141 |
| chr21:25105211 | rs2828478 | - | G>A | 2739 | 4502 | 18.19 | 2.002e-05 | 0.8785 |
| chr1:230904935 | rs28359647 | CAPN9 | G>A | 185 | 181 | 18.06 | 2.144e-05 | 1.561 |
| chr1:25226208 | rs111628829 | RUNX3 | G>A | 283 | 575 | 18.01 | 2.199e-05 | 0.7307 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: G562 | Lesion of ulnar nerve | 1/20 |
| ICD: G629 | Polyneuropathy, unspecified | 1/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: B91 | Sequelae of poliomyelitis | 0/20 |
| ICD-10: G632 | Diabetic polyneuropathy | 0/20 |
| ICD-10: R092 | Respiratory arrest | 0/20 |