Table 3 Coding variants associated with QT interval in AA ARIC subjects.
Chr:Position (hg19) | Gene | cDNA change | Protein change | MAF | Beta | P | PhyloP score | Protein domain | ExAC allele count |
---|---|---|---|---|---|---|---|---|---|
9:35711334 | TLN1 | c.A3937G | p.S1313G | 0.00026 | 15.81 | 3.60āĆā10ā60 | 3.48 | ā | 2/121374 |
2:179455331 | TTN | c.C61121T | p.P20374L | 0.00053 | 8.85 | 2.26āĆā10ā37 | 6.39 | ā | 2/119910 |
2:179447784 | TTN | c.C65746T | p.R21916W | 0.00026 | 4.98 | 5.87āĆā10ā07 | 0.65 | IGC2 | 13/113940 |
3:38645514 | SCN5A | c.G1579A | p.G527R | 0.00026 | 4.33 | 1.48āĆā10ā05 | 3.93 | ā | 4/90200 |
2:179528396 | TTN | c.C36490A | p.P12164T | 0.00026 | 4.10 | 4.03āĆā10ā05 | ā0.49 | IG | 7/117870 |
2:179447313 | TTN | c.C65870T | p.P21957L | 0.00026 | 3.90 | 9.92āĆā10ā05 | 6.22 | FN3 | ā |
2:179428672ā179428673 | TTN | c.82186_82187CAā>āGT | p.Q27396V | 0.00026 | 3.79 | 0.00015 | 4.74, 5.31 | FN3 | 1/120622, 1/120618 |
2:179451505 | TTN | c.G64123A | p.V21375M | 0.00026 | 3.79 | 0.00015 | 6.37 | FN3 | 1/120562 |
2:179497341 | TTN | c.G43392A | p.M14464I | 0.00026 | 3.79 | 0.00015 | 1.68 | IGC2 | 3/120562 |
2:179434555 | TTN | c.G76304A | p.C25435Y | 0.00026 | 3.62 | 0.00029 | 4.48 | IGC2 | 1/120440 |
2:179440480 | TTN | c.T70379G | p.L23460R | 0.00053 | 2.52 | 0.00036 | 5.13 | FN3 | ā |