Table 1.
Marker (hg38) | Amin/Amaj | MAF (%) | Info | LD size | Coding change | Coded gene | Other evidence in cis | Affected genes | Candidate gene | Effect (SD) [95% CI] | p value |
---|---|---|---|---|---|---|---|---|---|---|---|
rs724781 (chr1:153363542) | G/C | 26.7 | 1.00 | 7 | Downstream | – | eQTL, pQTL | S100A9 and S100A12 | S100A9 and S100A12 | −0.046 [−0.059; −0.033] | 6.6E−12 |
rs2245425 (chr1:179889309) | G/A | 36.4 | 1.00 | 74 | Splice acceptor | TOR1AIP1 | sQTL | TOR1AIP1 | TOR1AIP1 | 0.033 [0.021; 0.045] | 6.9E−8 |
rs41268715 (chr1:225333399) | C/G | 7.0 | 1.00 | 39 | p.Glu3232Gln | DNAH14 | – | – | LBR | −0.082 [−0.11; −0.057] | 9.6E−11 |
rs17522489 (chr1:225346229) | G/A | 20.9 | 1.00 | 26 | p.Gln3556Arg | DNAH14 | – | – | LBR | 0.048 [0.033; 0.063] | 8.7E−11 |
rs14205 (chr1:225401942) | G/A | 12.2 | 1.00 | 18 | 3’ UTR | – | – | – | LBR | 0.13 [0.11; 0.15] | 2.5E−43 |
rs80028106 (chr1:225402647) | T/C | 1.9 | 1.00 | 4 | 3’ UTR | – | – | – | LBR | −0.15 [−0.19; −0.11] | 5.9E−11 |
rs138769892 (chr1:225410316 | C/T | 0.33 | 1.00 | 33 | p.Tyr430Cys | LBR | – | – | LBR | 0.53 [0.43; 0.63] | 1.1E−26 |
rs12613605 (chr2:43131771) | T/G | 24.0 | 1.00 | 53 | Regulatory region | – | – | – | – | 0.043 [0.030; 0.056] | 3.2E−10 |
rs2036844 (chr5:126776461) | C/A | 27.6 | 1.00 | 21 | Upstream | – | eQTL | LMNB1 | LMNB1 | 0.052 [0.039; 0.065] | 2.3E−15 |
rs2561758 (chr5:173778279) | A/G | 27.2 | 1.00 | 7 | Regulatory region | – | – | – | – | 0.047 [0.034; 0.060] | 6.8E−13 |
rs757770077 (chr7:65987227) | Multi | 10.1 | 0.98 | 626 | Upstream | – | – | – | GUSB | −0.059 [−0.078; −0.040] | 2.2E−09 |
rs7846314 (chr8:60738272) | T/A | 18.6 | 1.00 | 4 | Upstream | – | pQTL | – | CHD7 | 0.061 [0.046; 0.076] | 3.6E−16 |
rs36084354 (chr19:1079960) | A/G | 14.1 | 1.00 | 3 | p.Met531Ile | HMHA1 | – | – | HMHA1 | 0.065 [0.048; 0.082] | 3.1E−14 |
Effect is shown for the minor allele in standard deviations.
Amin minor allele, Amaj major allele, Coding change the variant class annotation or the effects on coding sequence if applicable, MAF minor allele frequency, Info imputation information, LD size total number of variants correlating with R2 > 0.8 to the variant, eQTL expression quantitative trait locus (QTL), pQTL protein QTL, sQTL splicing QTL, SD standard deviation.