Table 4. eQTL and mQTL analysis for rs4925166.
Direction of effect is relative to the minor allele T. Note that the effect sizes cannot be directly compared because normalization methods and covariates partly differ between studies. Additional eQTLs and mQTLs are described in the Supplementary Materials. Because only the single eQTL rs4925166/SHMT1 was examined in GTEx data, no FDR is indicated here. NA, not applicable.
| Expression | ||||
| Data set | Transcript | Effect | P | FDR |
| DE1 | SHMT1 | 0.36 | 4.42 × 10−13 | 2.99 × 10−10 |
| MPIP | SHMT1 | 0.19 | 4.26 × 10−12 | 1.28 × 10−11 |
| GTP | SHMT1 | 0.11 | 3.12 × 10−4 | 1.25 × 10−3 |
| GTEx | SHMT1 | 0.56 | 09.2 × 10−28 | NA |
| Methylation | ||||
| Data set | CpG | Effect | P | FDR |
| MPIP | cg26763362 | −0.03 | 3.21 × 10−20 | 5.04 × 10−18 |
| GTP | cg26763362 | −0.03 | 1.98 × 10−14 | 1.58 × 10−13 |