Statistics
| Case | Control |
|---|---|
| 6776 | 453418 |
Phenotype Definition
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. [DDD:dbrown, HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 265 | 27261 | 48.63 | 3.099e-12 | 0.6497 |
| chr15:72053984 | rs922917 | THSD4 | C>T | 505 | 44600 | 38.13 | 6.616e-10 | 0.7554 |
| chr15:48392165 | rs1834640 | - | A>G | 333 | 31291 | 37.5 | 9.158e-10 | 0.712 |
| chr15:72054830 | rs7402101 | THSD4 | C>T | 520 | 45553 | 36.91 | 1.24e-09 | 0.7618 |
| chr5:147671850 | rs7724380 | - | G>A | 194 | 19989 | 35.51 | 2.542e-09 | 0.6508 |
| chr2:236294462 | rs57088602 | - | T>C | 369 | 33788 | 35.49 | 2.559e-09 | 0.73 |
| chr9:129979758 | rs3780318 | RALGPS1 | G>A | 148 | 16093 | 34.41 | 4.454e-09 | 0.6174 |
| chr9:140957557 | rs11137360 | CACNA1B | A>G | 206 | 20800 | 34.26 | 4.817e-09 | 0.6637 |
| chr18:42439886 | rs991014 | SETBP1 | C>T | 6059 | 385764 | 34.17 | 5.056e-09 | 1.105 |
| chr13:113979972 | Affx-80297025 | GRTP1 | A>ACACT | 107 | 12600 | 34.12 | 5.188e-09 | 0.5702 |
| chr12:1684934 | rs7976513 | WNT5B | G>A | 548 | 47055 | 32.99 | 9.256e-09 | 0.778 |
| chr5:147666044 | rs7707813 | - | T>C | 181 | 18582 | 32.57 | 1.15e-08 | 0.6532 |
| chr9:129984107 | rs3739553 | RALGPS1 | G>A | 141 | 15272 | 32.37 | 1.273e-08 | 0.6193 |
| chr4:23818884 | rs2932971 | PPARGC1A | C>T | 3773 | 235152 | 31.88 | 1.643e-08 | 1.114 |
| chr6:37328215 | Affx-28571852 | RNF8 | C>CT | 189 | 19127 | 31.58 | 1.912e-08 | 0.6632 |
| chr4:23851538 | rs76327932 | PPARGC1A | C>T | 4032 | 252233 | 31.36 | 2.145e-08 | 1.111 |
| chr5:23124187 | rs9293055 | - | A>G | 394 | 35100 | 31.21 | 2.321e-08 | 0.7512 |
| chr4:88501530 | rs6815338 | - | C>T | 270 | 25482 | 31.19 | 2.342e-08 | 0.7094 |
| chr15:89154966 | rs7170666 | - | G>A | 594 | 50152 | 31.06 | 2.498e-08 | 0.791 |
| chr13:113979968 | rs200506581 | GRTP1 | C>CCACA | 111 | 12615 | 30.92 | 2.684e-08 | 0.5909 |
| chr4:23818884 | rs2932971 | PPARGC1A | C>T | 3630 | 223358 | 33.71 | 6.413e-09 | 1.12 |
| chr4:23851538 | rs76327932 | PPARGC1A | C>T | 3895 | 241122 | 31.53 | 1.959e-08 | 1.113 |
| chr18:42456653 | rs663651 | SETBP1 | A>G | 5501 | 390047 | 30.72 | 2.981e-08 | 0.9066 |
| chr18:42439886 | rs991014 | SETBP1 | C>T | 5848 | 370107 | 29.97 | 4.378e-08 | 1.1 |
| chr2:36673555 | rs7562790 | CRIM1 | T>G | 5760 | 366177 | 25.97 | 3.461e-07 | 1.093 |
| chr18:42456670 | rs3085861 | SETBP1 | CTCTT>C | 5640 | 396682 | 25.15 | 5.314e-07 | 0.9157 |
| chr19:485464 | rs117165482 | - | G>A | 219 | 10545 | 23.79 | 1.073e-06 | 1.397 |
| chr17:9127010 | rs12939263 | NTN1 | C>T | 3302 | 238069 | 23.6 | 1.183e-06 | 0.9067 |
| chr2:161355044 | rs115435626 | - | T>C | 394 | 33414 | 22.79 | 1.803e-06 | 0.7827 |
| chr3:38766760 | rs73062575 | SCN10A | G>T | 545 | 29880 | 22.18 | 2.477e-06 | 1.231 |
| chr18:6565863 | rs28488440 | - | A>C | 1086 | 63312 | 21.9 | 2.868e-06 | 1.161 |
| chr8:70864599 | rs61364965 | - | C>T | 196 | 9409 | 21.66 | 3.256e-06 | 1.4 |
| chr16:85982521 | rs305086 | - | G>A | 2368 | 145108 | 21.56 | 3.432e-06 | 1.112 |
| chr18:59598753 | rs12967946 | PIGN | A>C | 704 | 55845 | 21.55 | 3.452e-06 | 0.8348 |
| chr15:67463106 | rs118128985 | SMAD3 | C>T | 250 | 12477 | 21.53 | 3.479e-06 | 1.347 |
| chr4:167571420 | rs75307686 | - | G>A | 617 | 49196 | 20.01 | 7.716e-06 | 0.8309 |
| chr18:42456664 | rs202066186 | SETBP1 | TTC>T | 5451 | 379721 | 19.85 | 8.384e-06 | 0.924 |
| chr25:154986418 | rs142918084 | - | C>G | 361 | 30340 | 19.49 | 1.009e-05 | 0.7892 |
| chr4:23788341 | rs2970882 | PPARGC1A | T>C | 4655 | 295379 | 19.4 | 1.058e-05 | 1.084 |
| chr11:7262789 | rs16923778 | SYT9 | C>T | 91 | 9597 | 19.17 | 1.193e-05 | 0.6321 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr2:36673555 | rs7562790 | CRIM1 | T>G | 5760 | 11065 | 23.63 | 1.167e-06 | 1.109 |
| chr10:76237498 | rs7100550 | ADK | T>C | 3749 | 7051 | 22.29 | 2.349e-06 | 1.118 |
| chr18:42439886 | rs991014 | SETBP1 | C>T | 5848 | 11248 | 22.16 | 2.513e-06 | 1.105 |
| chr18:65109675 | rs4268859 | - | G>A | 1535 | 3567 | 21.93 | 2.827e-06 | 0.8587 |
| chr18:42456653 | rs663651 | SETBP1 | A>G | 5501 | 11914 | 21.54 | 3.458e-06 | 0.9056 |
| chr10:75860098 | rs17743339 | VCL | G>A | 3747 | 7046 | 21.48 | 3.584e-06 | 1.116 |
| chr5:99662193 | rs114297956 | - | T>C | 804 | 1977 | 21.27 | 3.996e-06 | 0.8195 |
| chr5:80641345 | rs112447819 | ACOT12 | T>C | 426 | 657 | 20.9 | 4.832e-06 | 1.333 |
| chr6:126494311 | rs35431148 | TRMT11 | TC>T | 461 | 719 | 20.86 | 4.936e-06 | 1.318 |
| chr1:10784899 | rs116461502 | CASZ1 | C>A | 396 | 605 | 20.66 | 5.482e-06 | 1.345 |
| chr8:53389302 | rs4873647 | - | A>G | 545 | 1388 | 20.4 | 6.279e-06 | 0.7922 |
| chr1:153337121 | rs74807144 | - | A>G | 393 | 601 | 20.24 | 6.836e-06 | 1.343 |
| chr10:76066560 | rs11000978 | ADK | T>C | 3801 | 7191 | 19.76 | 8.793e-06 | 1.11 |
| chr4:74580017 | rs114845215 | - | A>G | 304 | 448 | 19.69 | 9.118e-06 | 1.393 |
| chr10:75900464 | rs35601073 | AP3M1 | A>G | 2327 | 4278 | 19.48 | 1.017e-05 | 1.133 |
| chr13:32472367 | rs116908681 | FRY | A>G | 336 | 902 | 19.41 | 1.057e-05 | 0.7524 |
| chr10:76002060 | rs6480726 | ADK | G>T | 3753 | 7093 | 19.39 | 1.067e-05 | 1.11 |
| chr10:76132162 | rs1904067 | ADK | C>T | 3763 | 7110 | 19.13 | 1.223e-05 | 1.109 |
| chr17:58024275 | rs180515 | RPS6KB1 | A>G | 4655 | 10106 | 19.02 | 1.296e-05 | 0.9086 |
| chr12:31916653 | rs1580417 | - | A>G | 2421 | 4471 | 18.78 | 1.464e-05 | 1.128 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: I447 | Left bundle-branch block, unspecified | 5/20 |
| ICD: I451 | Other and unspecified right bundle-branch block | 3/20 |