Table 1.
Locus number | Rs-name/Chr: position (hg38) | Effect allele/other | EAFa (%) | Variant annotation | Coding change | Closest gene | OR (95% CI) | P-value | P-value threshold |
---|---|---|---|---|---|---|---|---|---|
1 | rs387906656b/chr14:23396970 | A/G | 0.34 | Missense | p.Arg721Trp | MYH6 | 8.88 (6.97–11.32) | 7.5 × 10−70 | 2.6 × 10−8 |
2 | rs7689774/chr4:110782354 | T/G | 20.07 | Intergenic | – | MIR297, PITX2 | 1.21 (1.15–1.26) | 2.0 × 10−15 | 1.2 × 10−9 |
3 | rs11554495/chr12:52904798 | A/C | 1.64 | Missense | p.Gly62Cys | KRT8 | 1.62 (1.43–1.84) | 9.4 × 10−14 | 2.6 × 10−8 |
4 | rs12932445/chr16:73035989 | C/T | 20.10 | Intronic | – | ZFHX3 | 1.16 (1.11–1.21) | 8.1 × 10−10 | 1.2 × 10−9 |
5 | rs35813871c/chr2:178785681 | A/G | 26.63 | Missense | p.Thr811Ile | TTN | 1.13 (1.09–1.18) | 5.7 × 10−9 | 2.6 × 10−8 |
rs34883828c/chr2:178905448 | A/C | 15.23 | Missense | p.Glu382Asp | CCDC141 | 1.15 (1.09–1.21) | 1.1 × 10−7 | 2.6 × 10−8 | |
6 | rs6795970/chr3:38725184 | A/G | 35.78 | Missense | p.Val1073Ala | SCN10A | 1.12 (1.07–1.16) | 2.5 × 10−8 | 2.6 × 10−8 |
CI, confidence interval; OR, odds ratio.
Effect allele frequency in Iceland (deCODE).
Variant exclusive to Iceland.
p.Thr811Ile in TTN and p.Glu382Asp in CCDC141 are weakly correlated: R2= 0.20, D’ = 0.64.