Statistics
| Case | Control |
|---|---|
| 5803 | 454391 |
Phenotype Definition
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. [DDD:dbrown, HPO:probinson]
Phenotype Comment
The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr2:179755937 | rs34940894 | CCDC141 | A>G | 1915 | 133438 | 34.2 | 4.962e-09 | 1.158 |
| chr2:179770175 | rs34883828 | CCDC141 | C>A | 1882 | 131548 | 31.94 | 1.589e-08 | 1.153 |
| chr2:236294462 | rs57088602 | - | T>C | 317 | 33840 | 29.89 | 4.573e-08 | 0.7325 |
| chr19:485464 | rs117165482 | - | G>A | 229 | 12720 | 28.72 | 8.359e-08 | 1.432 |
| chr10:54301740 | rs7085224 | - | A>G | 2029 | 177366 | 25.89 | 3.606e-07 | 0.883 |
| chr3:38766675 | rs6795970 | SCN10A | G>A | 5018 | 374340 | 25.41 | 4.629e-07 | 1.098 |
| chr1:35656664 | rs11264115 | SFPQ | G>A | 323 | 33616 | 25.34 | 4.817e-07 | 0.7526 |
| chr2:179807302 | rs55883940 | CCDC141 | A>G | 2779 | 201613 | 25.14 | 5.345e-07 | 1.115 |
| chr3:38774832 | rs6800541 | SCN10A | T>C | 5118 | 382703 | 24.88 | 6.113e-07 | 1.096 |
| chr3:127438669 | rs585887 | MGLL | T>G | 68 | 9728 | 24.65 | 6.873e-07 | 0.5505 |
| chr10:54307933 | rs1730480 | - | A>G | 2607 | 223876 | 24.53 | 7.321e-07 | 0.8957 |
| chr3:38766760 | rs73062575 | SCN10A | G>T | 479 | 30319 | 24.07 | 9.273e-07 | 1.259 |
| chr8:23598040 | rs6991937 | - | C>T | 4059 | 300607 | 24.03 | 9.486e-07 | 1.1 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 256 | 27270 | 23.57 | 1.205e-06 | 0.7357 |
| chr1:62462325 | rs72677908 | PATJ | G>A | 319 | 19241 | 23.28 | 1.399e-06 | 1.317 |
| chr12:94649103 | rs865569 | PLXNC1 | C>T | 1779 | 156009 | 22.9 | 1.707e-06 | 0.8839 |
| chr8:23580010 | rs9785115 | - | C>T | 4460 | 332156 | 22.88 | 1.728e-06 | 1.095 |
| chr25:154986418 | rs142918084 | - | C>G | 319 | 32630 | 22.38 | 2.232e-06 | 0.7639 |
| chr7:32077015 | rs30572 | PDE1C | T>C | 2979 | 253523 | 22.33 | 2.3e-06 | 0.9047 |
| chr3:38738717 | rs6599240 | SCN10A | G>A | 5800 | 437618 | 22.29 | 2.343e-06 | 1.09 |
| chr2:179755937 | rs34940894 | CCDC141 | A>G | 1841 | 127723 | 30.69 | 3.026e-08 | 1.152 |
| chr19:485464 | rs117165482 | - | G>A | 199 | 10565 | 30.39 | 3.529e-08 | 1.485 |
| chr2:179770175 | rs34883828 | CCDC141 | C>A | 1808 | 125898 | 28.25 | 1.067e-07 | 1.147 |
| chr1:14542394 | rs116600476 | KAZN | G>A | 185 | 10097 | 24.24 | 8.524e-07 | 1.442 |
| chr7:39853695 | rs12668241 | - | A>G | 2327 | 199215 | 23.93 | 9.972e-07 | 0.8922 |
| chr25:154986418 | rs142918084 | - | C>G | 295 | 30406 | 23.52 | 1.239e-06 | 0.7507 |
| chr7:32077015 | rs30572 | PDE1C | T>C | 2808 | 237709 | 22.91 | 1.697e-06 | 0.9009 |
| chr7:32058830 | rs17336533 | PDE1C | G>T | 1025 | 92549 | 22.9 | 1.703e-06 | 0.8545 |
| chr16:85982521 | rs305086 | - | G>A | 2046 | 145430 | 22.72 | 1.876e-06 | 1.124 |
| chr3:38766760 | rs73062575 | SCN10A | G>T | 473 | 29952 | 21.88 | 2.898e-06 | 1.247 |
| chr8:23598040 | rs6991937 | - | C>T | 3948 | 290643 | 21.73 | 3.139e-06 | 1.096 |
| chr7:32069640 | rs30567 | PDE1C | C>T | 2862 | 241586 | 21.53 | 3.476e-06 | 0.9043 |
| chr3:38738717 | rs6599240 | SCN10A | G>A | 5542 | 414552 | 21.46 | 3.608e-06 | 1.091 |
| chr1:62462325 | rs72677908 | PATJ | G>A | 314 | 18992 | 20.98 | 4.637e-06 | 1.301 |
| chr6:108753744 | rs117455370 | AFG1L | A>G | 167 | 18546 | 20.88 | 4.884e-06 | 0.7005 |
| chr2:179807302 | rs55883940 | CCDC141 | A>G | 2690 | 194743 | 20.87 | 4.916e-06 | 1.106 |
| chr25:2011557 | rs6588882 | - | A>G | 2634 | 190267 | 20.01 | 7.718e-06 | 1.105 |
| chr4:23851538 | rs76327932 | PPARGC1A | C>T | 3304 | 241713 | 19.87 | 8.297e-06 | 1.097 |
| chr12:12231269 | Affx-7027769 | BCL2L14 | G>A | 1111 | 76480 | 19.78 | 8.696e-06 | 1.152 |
| chr8:82399647 | rs62513551 | - | G>A | 189 | 10723 | 19.61 | 9.497e-06 | 1.386 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:22115959 | rs2383207 | - | G>A | 5781 | 9224 | 46.4 | 9.622e-12 | 1.168 |
| chr9:22098574 | rs4977574 | - | A>G | 5941 | 11152 | 45.77 | 1.332e-11 | 0.8572 |
| chr9:22088260 | rs10757272 | - | C>T | 5965 | 11171 | 45.18 | 1.8e-11 | 0.8581 |
| chr9:22125347 | rs1333048 | - | A>C | 6111 | 11410 | 44.15 | 3.044e-11 | 0.8596 |
| chr9:22096055 | rs10757274 | - | A>G | 5979 | 11170 | 42.74 | 6.261e-11 | 0.8618 |
| chr9:22124477 | rs10757278 | - | A>G | 5921 | 11057 | 39.82 | 2.784e-10 | 0.8662 |
| chr9:22125503 | rs1333049 | - | G>C | 5934 | 11054 | 38.46 | 5.588e-10 | 0.8685 |
| chr9:22081850 | rs6475606 | - | C>T | 6066 | 11275 | 37.08 | 1.135e-09 | 0.8706 |
| chr9:22003223 | rs3217992 | AL359922.1 | C>T | 4421 | 8333 | 32.3 | 1.323e-08 | 0.8748 |
| chr9:22003367 | rs1063192 | AL359922.1 | A>G | 5243 | 8475 | 29.06 | 7.018e-08 | 1.132 |
| chr9:22031005 | rs7865618 | - | A>G | 5130 | 8310 | 27.2 | 1.837e-07 | 1.128 |
| chr9:22033366 | rs2157719 | - | T>C | 5128 | 8293 | 26.55 | 2.565e-07 | 1.127 |
| chr9:22029445 | rs10965215 | AL359922.1 | G>A | 5749 | 10607 | 26.08 | 3.27e-07 | 0.8902 |
| chr6:160997118 | rs74617384 | LPA | A>T | 953 | 1998 | 25.72 | 3.946e-07 | 0.812 |
| chr6:108753744 | rs117455370 | AFG1L | A>G | 168 | 454 | 24.85 | 6.185e-07 | 0.6375 |
| chr6:160727102 | rs412522 | - | C>T | 5767 | 10615 | 24.84 | 6.216e-07 | 0.892 |
| chr9:22068652 | rs4977756 | - | A>G | 4770 | 7718 | 24.83 | 6.251e-07 | 1.124 |
| chr6:161010118 | rs10455872 | LPA | A>G | 981 | 2045 | 24.43 | 7.71e-07 | 0.8183 |
| chr3:115649466 | rs7650115 | LSAMP | T>C | 5653 | 10413 | 24.24 | 8.485e-07 | 0.8939 |
| chr9:22019129 | rs523096 | AL359922.1 | A>G | 5265 | 8557 | 24.24 | 8.519e-07 | 1.12 |
| chr9:22115959 | rs2383207 | - | G>A | 5609 | 8799 | 47.69 | 4.985e-12 | 1.176 |
| chr9:22098574 | rs4977574 | - | A>G | 5688 | 10503 | 42.14 | 8.476e-11 | 0.8589 |
| chr9:22088260 | rs10757272 | - | C>T | 5681 | 10466 | 41.35 | 1.271e-10 | 0.8602 |
| chr9:22096055 | rs10757274 | - | A>G | 5718 | 10517 | 40.26 | 2.224e-10 | 0.862 |
| chr9:22125347 | rs1333048 | - | A>C | 5837 | 10718 | 40.21 | 2.283e-10 | 0.862 |
| chr9:22081850 | rs6475606 | - | C>T | 5640 | 10377 | 38.85 | 4.576e-10 | 0.8643 |
| chr9:22125503 | rs1333049 | - | G>C | 5680 | 10405 | 35.28 | 2.85e-09 | 0.8703 |
| chr9:22124477 | rs10757278 | - | A>G | 5673 | 10405 | 35.15 | 3.056e-09 | 0.8704 |
| chr9:22003223 | rs3217992 | AL359922.1 | C>T | 4193 | 7820 | 34.03 | 5.419e-09 | 0.8683 |
| chr6:160997118 | rs74617384 | LPA | A>T | 943 | 1969 | 28.76 | 8.18e-08 | 0.8009 |
| chr9:22003367 | rs1063192 | AL359922.1 | A>G | 5128 | 8174 | 28.07 | 1.169e-07 | 1.133 |
| chr6:161010118 | rs10455872 | LPA | A>G | 971 | 2016 | 27.33 | 1.711e-07 | 0.8076 |
| chr9:22031005 | rs7865618 | - | A>G | 5013 | 8005 | 26.42 | 2.745e-07 | 1.129 |
| chr9:22033366 | rs2157719 | - | T>C | 5015 | 7990 | 26.18 | 3.112e-07 | 1.129 |
| chr9:22068652 | rs4977756 | - | A>G | 4635 | 7365 | 26.11 | 3.233e-07 | 1.13 |
| chr9:22029445 | rs10965215 | AL359922.1 | G>A | 5416 | 9852 | 25.3 | 4.914e-07 | 0.8889 |
| chr6:108753744 | rs117455370 | AFG1L | A>G | 167 | 446 | 25.03 | 5.647e-07 | 0.6351 |
| chr9:22083404 | rs1333040 | - | T>C | 4727 | 7529 | 24.12 | 9.061e-07 | 1.125 |
| chr9:22053687 | rs10965219 | - | A>G | 5535 | 10030 | 23.88 | 1.023e-06 | 0.8919 |
| chr9:22019129 | rs523096 | AL359922.1 | A>G | 5144 | 8239 | 23.72 | 1.115e-06 | 1.122 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: I440 | Atrioventricular block, first degree | 5/20 |
| ICD: I441 | Atrioventricular block, second degree | 2/20 |