Statistics
| Case | Control |
|---|---|
| 5962 | 454232 |
Phenotype Definition
Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. [ORCID:0000-0001-5835-5515, PMID:23109785, PMID:8685759]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 1093 | 65965 | 52.79 | 3.718e-13 | 1.26 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 937 | 56055 | 48.46 | 3.375e-12 | 1.268 |
| chr23:64367019 | rs7064929 | - | G>A | 307 | 17259 | 37.86 | 7.603e-10 | 1.431 |
| chr15:45694768 | rs1834686 | SPATA5L1 | G>T | 205 | 10014 | 37.16 | 1.09e-09 | 1.538 |
| chr23:19215613 | rs5955734 | - | C>G | 486 | 29539 | 36.97 | 1.199e-09 | 1.329 |
| chr15:45556163 | rs8023604 | SLC28A2 | T>C | 245 | 12666 | 33.38 | 7.562e-09 | 1.454 |
| chr5:33955673 | rs35391 | SLC45A2 | C>T | 672 | 40308 | 33.37 | 7.627e-09 | 1.259 |
| chr5:33955326 | rs35390 | SLC45A2 | A>C | 674 | 40473 | 33.17 | 8.427e-09 | 1.258 |
| chr23:106146349 | rs5962774 | MORC4 | T>C | 203 | 10823 | 33.1 | 8.766e-09 | 1.506 |
| chr4:87809387 | rs1550931 | C4orf36 | T>G | 198 | 9938 | 31.53 | 1.961e-08 | 1.497 |
| chr15:45695612 | rs1346265 | SPATA5L1 | C>T | 223 | 11447 | 31.5 | 1.994e-08 | 1.463 |
| chr4:89042960 | rs2231144 | ABCG2 | T>C | 454 | 26217 | 30.68 | 3.041e-08 | 1.305 |
| chr18:9536315 | rs14336 | RALBP1 | A>C | 241 | 12626 | 30.49 | 3.363e-08 | 1.434 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 1370 | 88738 | 30.32 | 3.654e-08 | 1.172 |
| chr23:62263192 | rs17842839 | - | C>T | 425 | 25992 | 30.28 | 3.747e-08 | 1.316 |
| chr20:59873160 | rs2427048 | CDH4 | G>A | 244 | 12834 | 30.19 | 3.923e-08 | 1.428 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 323 | 17822 | 29.93 | 4.479e-08 | 1.363 |
| chr3:391100 | rs13060847 | CHL1 | G>A | 220 | 11434 | 29.12 | 6.797e-08 | 1.445 |
| chr23:62106634 | rs7886200 | - | G>A | 577 | 36885 | 28.95 | 7.425e-08 | 1.262 |
| chr23:109167576 | rs2475827 | - | A>T | 319 | 18880 | 28.42 | 9.787e-08 | 1.357 |
| chr6:160961137 | rs3798220 | LPA | T>C | 288 | 16494 | 23.65 | 1.157e-06 | 1.339 |
| chr5:76240038 | rs17670187 | - | G>C | 828 | 73977 | 22.68 | 1.915e-06 | 0.8417 |
| chr6:161313619 | rs74625856 | - | A>T | 493 | 30500 | 21.68 | 3.219e-06 | 1.24 |
| chr6:160848743 | rs9457925 | SLC22A3 | G>A | 288 | 16757 | 21.14 | 4.276e-06 | 1.317 |
| chr6:160922870 | rs117733303 | - | A>G | 287 | 16697 | 21.14 | 4.261e-06 | 1.318 |
| chr5:73944316 | rs112079675 | HEXB | T>C | 363 | 34970 | 20.72 | 5.319e-06 | 0.784 |
| chr9:22115959 | rs2383207 | - | G>A | 5534 | 440487 | 20.69 | 5.397e-06 | 0.9193 |
| chr14:86819050 | rs79757103 | - | C>T | 701 | 45091 | 20.57 | 5.745e-06 | 1.194 |
| chr16:81948514 | rs72824912 | PLCG2 | A>G | 200 | 11101 | 20.17 | 7.083e-06 | 1.38 |
| chr11:118983434 | rs2239896 | C2CD2L | C>T | 740 | 48038 | 19.93 | 8.032e-06 | 1.186 |
| chr1:107577832 | rs4118325 | - | G>A | 2119 | 176035 | 19.7 | 9.067e-06 | 0.8986 |
| chr1:109823962 | rs72703210 | PSRC1 | T>C | 423 | 39824 | 19.69 | 9.126e-06 | 0.8022 |
| chr9:22125347 | rs1333048 | - | A>C | 6187 | 452954 | 19.69 | 9.096e-06 | 1.085 |
| chr3:132058350 | rs11706011 | ACP3 | T>A | 2057 | 143283 | 19.46 | 1.025e-05 | 1.114 |
| chr13:94005293 | rs17300157 | GPC6 | A>G | 1713 | 117793 | 19.42 | 1.049e-05 | 1.123 |
| chr9:22081850 | rs6475606 | - | C>T | 6000 | 438762 | 19.18 | 1.187e-05 | 1.084 |
| chr17:790568 | rs2663320 | NXN | G>A | 682 | 44036 | 19.17 | 1.195e-05 | 1.19 |
| chr15:36366222 | rs812584 | - | T>C | 1084 | 93646 | 19.0 | 1.307e-05 | 0.8697 |
| chr9:22098574 | rs4977574 | - | A>G | 6049 | 442677 | 18.93 | 1.355e-05 | 1.084 |
| chr1:107522546 | rs78409645 | - | T>A | 596 | 53967 | 18.79 | 1.463e-05 | 0.8328 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:127573750 | rs4838215 | OLFML2A | C>T | 25 | 5 | 46.07 | 1.141e-11 | 0.07527 |
| chr3:186877481 | rs116152300 | RPL39L | C>A | 109 | 10 | 37.91 | 7.407e-10 | 0.161 |
| chr14:53094859 | rs62005398 | GPR137C | G>A | 428 | 22 | 35.31 | 2.811e-09 | 0.2748 |
| chr1:65598045 | rs74080292 | - | C>T | 383 | 19 | 28.5 | 9.376e-08 | 0.2886 |
| chr20:43359813 | rs6073532 | - | C>T | 193 | 12 | 26.13 | 3.192e-07 | 0.2361 |
| chr17:35168093 | rs117980310 | - | T>C | 98 | 8 | 25.93 | 3.532e-07 | 0.1824 |
| chr4:95436662 | rs114422274 | PDLIM5 | T>C | 98 | 8 | 25.88 | 3.626e-07 | 0.1827 |
| chr19:29934907 | rs79005430 | - | G>A | 121 | 9 | 25.55 | 4.319e-07 | 0.1998 |
| chr19:56292915 | rs80119651 | - | G>C | 314 | 16 | 25.53 | 4.366e-07 | 0.2813 |
| chr5:134001565 | rs115087448 | SEC24A | T>C | 456 | 20 | 23.67 | 1.145e-06 | 0.3271 |
| chr4:74968642 | rs114862057 | - | C>T | 235 | 13 | 23.41 | 1.307e-06 | 0.2646 |
| chr9:118179478 | rs77379177 | - | A>G | 359 | 17 | 23.24 | 1.43e-06 | 0.3058 |
| chr16:64648787 | rs117824945 | - | T>C | 299 | 15 | 22.83 | 1.773e-06 | 0.29 |
| chr13:51461179 | rs117227646 | - | T>C | 268 | 14 | 22.82 | 1.781e-06 | 0.2797 |
| chr11:57292670 | rs77189400 | - | T>C | 157 | 10 | 22.49 | 2.116e-06 | 0.2328 |
| chr20:55593127 | rs117288071 | - | C>T | 241 | 13 | 22.42 | 2.193e-06 | 0.2714 |
| chr15:64295372 | rs80189561 | DAPK2 | G>A | 303 | 15 | 22.24 | 2.4e-06 | 0.2942 |
| chr4:81239392 | rs112700843 | FGF5 | A>G | 276 | 14 | 22.1 | 2.592e-06 | 0.2849 |
| chr4:75034847 | rs76913885 | MTHFD2L | A>G | 243 | 13 | 22.04 | 2.667e-06 | 0.2743 |
| chr8:12799079 | rs75569958 | - | A>G | 276 | 14 | 21.68 | 3.215e-06 | 0.288 |