Table 2 Coding variants associated with QT interval in EA ARIC subjects.
Chr:Position (hg19) | Gene | cDNA change | Protein change | MAF | Beta | P | PhyloP score | Protein domain | ExAC allele count |
---|---|---|---|---|---|---|---|---|---|
2:179455718 | TTN | c.G60734A | p.R20245Q | 0.00011 | 8.78 | 1.22āĆā10ā18 | 6.39 | FN2 | 4/120604 |
2:179407497 | TTN | c.G97084T | p.A32362S | 0.00011 | 5.39 | 6.89āĆā10ā8 | 0.15 | ā | ā |
2:212522534 | ERBB4 | c.C1891T | p.H631Y | 0.00022 | 3.69 | 1.73āĆā10ā7 | 4.15 | ā | ā |
2:179634919 | TTN | c.A8509T | p.S2837C | 0.00022 | 3.19 | 6.43āĆā10ā6 | 3.73 | IG | 12/121362 |
2:179473995 | TTN | c.A52042G | p.M17348V | 0.00011 | 4.14 | 3.33āĆā10ā5 | 1.38 | FN3 | 2/96388 |
2:179398282 | TTN | c.C103060T | p.P34354S | 0.00011 | 4.14 | 3.47āĆā10ā5 | 5.98 | ā | ā |
2:179629385 | TTN | c.A9857G | p.K3286R | 0.00011 | 4.11 | 3.81āĆā10ā5 | 5.11 | IGC2 | 15/121360 |
2:179496930 | TTN | c.C43691G | p.S14564C | 0.00011 | 4.11 | 3.98āĆā10ā5 | 6.35 | ā | 5/81630 |
2:179466803 | TTN | c.C55195T | p.P18399S | 0.00011 | 3.88 | 0.00010 | 4.14 | FN3 | 1/120260 |
8:13959964 | SGCZ | c.G665T | p.G222V | 0.00011 | 3.78 | 0.00015 | 5.48 | ā | ā |
2:179424880 | TTN | c.T85979C | p.I28660T | 0.00011 | 3.77 | 0.00016 | 5.31 | IGC2 | 2/120508 |
2:179413763 | TTN | c.G92590A | p.D30864N | 0.00011 | 3.66 | 0.00025 | 3.76 | FN3 | 16/120638 |
2:179486250 | TTN | c.A45301C | p.N15101H | 0.00011 | 3.62 | 0.00029 | 3.60 | ā | ā |
2:179644182 | TTN | c.A3737T | p.H1246L | 0.00011 | 3.63 | 0.00029 | 3.43 | ā | ā |
3:38592534 | SCN5A | c.G5326A | p.V1776M | 0.00011 | 3.62 | 0.00029 | 5.80 | ā | 3/121080 |
2:179666975 | TTN | c.G185A | p.R62H | 0.00011 | 3.56 | 0.00037 | 6.21 | IGC2 | 15/121364 |