Abnormal electrophysiology of sinoatrial node origin
0011702
Normal Case/Contol ⓘ
Sibling Case/Control ⓘ
Statistics
| Case | Control |
|---|---|
| 10477 | 449717 |
Phenotype Definition
An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr16:51697609 | rs116935069 | - | A>G | 1067 | 39261 | 25.45 | 4.544e-07 | 1.174 |
| chr6:37730895 | rs942387 | - | T>C | 633 | 32722 | 22.65 | 1.943e-06 | 0.8241 |
| chr18:72948852 | rs35891339 | TSHZ1 | G>A | 910 | 33422 | 21.88 | 2.901e-06 | 1.174 |
| chr10:104217753 | rs77060053 | - | A>G | 3554 | 141735 | 21.71 | 3.17e-06 | 1.09 |
| chr11:113283459 | rs6277 | DRD2 | A>G | 10709 | 443477 | 21.37 | 3.793e-06 | 1.065 |
| chr5:70956193 | rs111924368 | - | A>C | 1124 | 42078 | 21.04 | 4.495e-06 | 1.153 |
| chr21:42694373 | rs79909449 | FAM3B | C>T | 1003 | 49435 | 20.59 | 5.677e-06 | 0.8624 |
| chr19:38534304 | rs80250255 | SIPA1L3 | A>G | 2372 | 92991 | 20.5 | 5.968e-06 | 1.105 |
| chr5:137015272 | rs2967793 | KLHL3 | G>C | 4334 | 174348 | 20.32 | 6.54e-06 | 1.08 |
| chr5:177820299 | rs12658363 | COL23A1 | G>A | 1038 | 38708 | 20.21 | 6.946e-06 | 1.156 |
| chr12:113379390 | rs12819767 | OAS3 | C>T | 530 | 18716 | 19.71 | 9.008e-06 | 1.218 |
| chr1:236085940 | rs12038310 | - | C>T | 268 | 15008 | 19.38 | 1.073e-05 | 0.7618 |
| chr20:60866735 | rs113771708 | OSBPL2 | C>G | 756 | 37924 | 19.2 | 1.178e-05 | 0.8491 |
| chr5:177812611 | rs62389383 | COL23A1 | G>A | 1089 | 40913 | 19.19 | 1.183e-05 | 1.148 |
| chr5:171222055 | rs76376702 | SMIM23 | A>G | 575 | 20554 | 18.8 | 1.454e-05 | 1.204 |
| chr17:60882401 | rs9901698 | MARCHF10 | G>A | 9434 | 391003 | 18.72 | 1.514e-05 | 1.061 |
| chr7:136363780 | rs74974830 | - | C>A | 321 | 10805 | 18.54 | 1.66e-05 | 1.278 |
| chr16:15702060 | rs72770197 | BMERB1 | C>T | 1637 | 77760 | 18.53 | 1.672e-05 | 0.8943 |
| chr4:45418917 | rs111782231 | - | C>A | 834 | 41378 | 18.46 | 1.734e-05 | 0.8581 |
| chr5:79387580 | rs7727310 | - | C>T | 8492 | 350555 | 18.31 | 1.877e-05 | 1.062 |
| chr19:38534304 | rs80250255 | SIPA1L3 | A>G | 2343 | 91410 | 23.37 | 1.337e-06 | 1.113 |
| chr16:51697609 | rs116935069 | - | A>G | 1038 | 38443 | 23.32 | 1.37e-06 | 1.168 |
| chr11:113283459 | rs6277 | DRD2 | A>G | 9773 | 404105 | 23.05 | 1.576e-06 | 1.07 |
| chr5:70956193 | rs111924368 | - | A>C | 1112 | 41567 | 21.93 | 2.821e-06 | 1.157 |
| chr10:104217753 | rs77060053 | - | A>G | 3451 | 137715 | 21.88 | 2.905e-06 | 1.092 |
| chr5:177812611 | rs62389383 | COL23A1 | G>A | 934 | 34590 | 20.57 | 5.746e-06 | 1.166 |
| chr4:45418917 | rs111782231 | - | C>A | 803 | 40337 | 20.53 | 5.871e-06 | 0.8483 |
| chr18:72948852 | rs35891339 | TSHZ1 | G>A | 892 | 32939 | 20.42 | 6.215e-06 | 1.169 |
| chr12:29659543 | rs12581552 | TMTC1 | G>A | 3505 | 140139 | 20.27 | 6.728e-06 | 1.088 |
| chr9:123251859 | rs117593609 | CDK5RAP2 | A>G | 295 | 9768 | 19.83 | 8.48e-06 | 1.303 |
| chr21:42694373 | rs79909449 | FAM3B | C>T | 928 | 45861 | 19.3 | 1.116e-05 | 0.8617 |
| chr4:188455197 | rs2174493 | - | A>G | 1904 | 74199 | 19.24 | 1.156e-05 | 1.113 |
| chr12:113379390 | rs12819767 | OAS3 | C>T | 522 | 18481 | 19.24 | 1.153e-05 | 1.218 |
| chr12:96134001 | rs11108227 | NTN4 | C>G | 393 | 13512 | 19.23 | 1.159e-05 | 1.254 |
| chr11:113204266 | rs11214577 | TTC12 | C>T | 9810 | 435081 | 19.11 | 1.236e-05 | 0.9406 |
| chr5:171222055 | rs76376702 | SMIM23 | A>G | 567 | 20283 | 18.74 | 1.499e-05 | 1.205 |
| chr11:113209428 | rs10891536 | TTC12 | C>G | 9791 | 434112 | 18.74 | 1.501e-05 | 0.9411 |
| chr11:113268059 | rs11604671 | ANKK1 | G>A | 10324 | 456644 | 18.63 | 1.587e-05 | 0.9414 |
| chr7:81482415 | rs62467776 | - | T>C | 677 | 34244 | 18.59 | 1.621e-05 | 0.8437 |
| chr12:31885994 | rs11051551 | - | A>C | 2599 | 103068 | 18.17 | 2.02e-05 | 1.095 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:79352610 | rs407314 | THBS4 | C>T | 10519 | 68666 | 20.39 | 6.304e-06 | 1.069 |
| chr5:79387580 | rs7727310 | - | C>T | 8040 | 52008 | 20.17 | 7.085e-06 | 1.071 |
| chr14:22053863 | rs6571925 | - | A>G | 6390 | 45307 | 19.83 | 8.457e-06 | 0.931 |
| chr5:79351860 | rs447875 | THBS4 | A>G | 10521 | 68771 | 19.05 | 1.275e-05 | 1.067 |
| chr5:79390376 | rs2438637 | - | C>T | 7376 | 52005 | 19.03 | 1.288e-05 | 0.9347 |
| chr16:58380748 | rs116986328 | GINS3 | G>T | 615 | 3440 | 19.0 | 1.305e-05 | 1.213 |
| chr8:37200263 | rs1180552 | - | C>T | 6181 | 39705 | 18.7 | 1.531e-05 | 1.073 |
| chr3:189258284 | rs74725117 | - | T>G | 589 | 3291 | 18.31 | 1.872e-05 | 1.214 |
| chr13:101548910 | rs9518201 | - | T>C | 4713 | 33722 | 18.07 | 2.127e-05 | 0.9276 |
| chr5:79260382 | rs9293795 | - | T>C | 8184 | 53144 | 17.95 | 2.267e-05 | 1.067 |
| chr19:38534304 | rs80250255 | SIPA1L3 | A>G | 2343 | 14471 | 17.91 | 2.32e-05 | 1.105 |
| chr5:70956193 | rs111924368 | - | A>C | 1112 | 6574 | 17.82 | 2.424e-05 | 1.151 |
| chr9:95577926 | rs7026366 | - | A>G | 394 | 3321 | 17.76 | 2.506e-05 | 0.7975 |
| chr16:82321260 | rs28618260 | - | C>A | 935 | 5456 | 17.69 | 2.604e-05 | 1.164 |
| chr10:104217753 | rs77060053 | - | A>G | 3451 | 21738 | 17.48 | 2.907e-05 | 1.087 |
| chr15:87451761 | rs111861340 | AGBL1 | G>A | 432 | 3596 | 17.43 | 2.985e-05 | 0.807 |
| chr18:65400425 | rs13353224 | - | A>G | 1453 | 8748 | 17.39 | 3.041e-05 | 1.13 |
| chr25:2054639 | rs73623901 | - | C>T | 2486 | 15418 | 17.35 | 3.112e-05 | 1.101 |
| chr8:125438963 | rs73337998 | - | G>A | 2053 | 12610 | 17.31 | 3.17e-05 | 1.11 |
| chr12:29659543 | rs12581552 | TMTC1 | G>A | 3505 | 22069 | 17.3 | 3.187e-05 | 1.086 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: R001 | Bradycardia, unspecified | 1/20 |