Extended Data Table 2. Annotations of trabeculation-associated loci.
Overview of the 16 independent loci discovered in the trabeculation GWAS. The genetic variant with the lowest p-value per locus is shown. Annotations: PheWAS: phase 2 PheWAS described by46 (phenotype reference ID in parentheses; derived from open Targets Genetics v0.3.2), GWAS: GWAS catalogue23, eQTLs and tissues: GTEx catalogue v725. Chromosomes (CHR), base pair positions (BP) and nearest protein coding gene (nPCG): GRCh37 (Ensembl GRCh37 Release 95). No entry indicated by -. BP, Blood pressure; LV, left ventricle; AA, atrial appendage.
| CHR | BP | SNP | nPCG | PheWAS | GWAS | eQTLS | Tissues |
|---|---|---|---|---|---|---|---|
| 1 | 61895257 | rs6587924 | TM2D1 | - | - | - | - |
| 1 | 155962067 | rs35770803 | ARHGEF2 | - | - | - | - |
| 1 | 201332020 | rs 1892027 | TNNT2 | - | - | PKP1 | Skeletal muscle, adipose |
| 2 | 179531078 | rs71394376 | TTN | - | - | - | - |
| 3 | 73554922 | rs4677294 | PDZRN3 | - | - | PDZRN3, PDZRN3-AS1 | LV, artery, AA, aorta |
| 3 | 169191428 | rs 1918978 | MECOM | - | - | - | - |
| 5 | 153871841 | rs 10076436 | HAND1 | - | - | SAP30L | Transformed fibroblasts |
| 6 | 31081940 | rs3130976 | PSORS1C1 | 84 phenotypes | Nephropathy, adult asthma, CLE | 18 genes | 37 tissues including LV and AA |
| 6 | 118690014 | rs9320648 | PLN | Pulse rate, diastolic BP (4195, 102) | - | SSXP10, CEP85L, SLC35F1 | 13 tissues including AA |
| 8 | 11794962 | rs698l46l | DEFB136 | - | C-reactive protein | 28 genes | 35 tissues including LV and AA |
| 8 | 125859817 | rs35006907 | MTSS1 | - | Ejection fraction, fractional shortening, LV internal dimension in systole and diastole, relative wall thickness, LV internal dimension, atrial fibrillation | MTSS1, LINC00964 | LV, lung, AA |
| 12 | 115381071 | rs7132327 | TBX3 | - | Global electrical heterogeneity phenotypes, QRS complex, QRS duration, PR segment, PR interval | - | - |
| 14 | 71990847 | rs71105784 | SIPA1L1 | - | QRS complex, QRS duration, mitral valve prolapse | - | - |
| 17 | 45013271 | rs 17608766 | GOSR2 | Systolic BP, hypertension (4080, 6150_4, 6150_100, 20002_1065, 103) | Systolic BP, QRS duration, pulse pressure, BP, aortic root size, atrial fibrillation | RPRML, GOSR2, CDC27, RP11-63A1.2, RP11-156P1.3 | Skeletal muscle, testis, adrenal gland |
| 19 | 7581244 | rs 113394178 | ZNF358 | - | - | ZNF358 | AA |
| 22 | 33127481 | rs3788488 | TIMP3 | - | - | - | - |