Table 3.
Rare Single Variant Hits for SBP and DBP (p<4.74 × 10−7).
| Variant | Gene | Site | Type | Trait | MAF | p-value | # copies | βsm (SE)a | βst (95%CI)b |
|---|---|---|---|---|---|---|---|---|---|
| rs11568416 | SLC28A3 | intronic | splice | SBP | 1.89 × 10−4 | 8.92 × 10−8 | 6 | 39.44 (7.38) | 1.96 (1.16 – 2.76) |
| rs536397959 | KRBA1 | exonic | synonymous | SBP | 6.28 × 10−5 | 2.35 × 10−8 | 2 | 73.65 (13.19) | 3.93 (2.55 – 5.32) |
| rs139989095 | SEL1L3 | exonic | missense | SBP | 6.28 × 10−5 | 3.23 × 10−8 | 2 | 49.02 (8.87) | 3.91 (2.53 – 5.30) |
| rs147110080 | YOD1 | exonic | missense | SBP | 6.28 × 10−5 | 1.18 × 10−9 | 2 | 64.41 (10.59) | 3.57 (2.18 – 4.96) |
| rs150432347 | COL6A1 | exonic | missense | SBP | 6.05 × 10−4 | 1.19 × 10−7 | 19 | 22.14 (4.18) | 1.16 (0.71 – 1.61) |
| rs138594727 | CRYBA2 | exonic | missense | SBP | 4.73 × 10−4 | 3.02 × 10−7 | 15 | 25.92 (5.06) | 1.27 (0.76 – 1.78) |
| rs148474705 | GAPDHS | exonic | missense | SBP | 6.28 × 10−5 | 4.60 × 10−7 | 2 | 53.85 (10.68) | 3.51 (2.12 – 4.89) |
| rs148474705 | GAPDHS | exonic | missense | DBP | 6.28 × 10−5 | 1.39 × 10−8 | 2 | 40.24 (7.09) | 3.97 (2.58-5.36) |
| rs142319329 | AFF1 | exonic | missense | DBP | 2.51 × 10−4 | 2.95 × 10−7 | 8 | 21.10 (4.12) | 1.77 (1.07 – 2.46) |
SBP, systolic blood pressure; DBP, diastolic blood pressure; MAF, minor allele frequency; βsm, seqMeta beta; βst, beta as standardized mean difference; SE, standard error; 95% CI, 95% confidence interval; # copies, allele count
a
The βsm (SE) values are reported from seqMeta output, in units of the phenotype residuals.
b
The βst (95% CI) values are calculated as the mean standardized difference between the LTA residuals for all carriers and all non-carriers for each variant.