Suggested VTE-associated SNPs identified in the GWAS and their replication in independent samples
| Chromosome, gene . | Position . | rsID . | Alleles* . | Study† . | MAF . | Allelic association‡ OR (95% confidence interval) . | P . | |
|---|---|---|---|---|---|---|---|---|
| Controls . | Cases . | |||||||
| 1, F5 | 167,695,568 | rs1208134 | A/G | GWAS | 0.05 | 0.12 | 2.29 (1.58-3.32) | 3.47 × 10−7 |
| MARTHA | 0.13 | 0.19 | 1.57 (1.31-1.88) | 2.89 × 10−7 | ||||
| FARIVE | 0.07 | 0.09 | 1.31 (0.97-1.78) | 7.90 × 10−3 | ||||
| 167,758,179 | rs2420371 | A/G | GWAS | 0.07 | 0.15 | 2.27 (1.62-3.18) | 8.08 × 10−10 | |
| MARTHA | 0.16 | 0.21 | 1.39 (1.17-1.64) | 3.00 × 10−5 | ||||
| FARIVE | 0.07 | 0.10 | 1.44 (1.07-1.93) | 1.80 × 10−3 | ||||
| 9, ABO | 135,129,086 | rs657152 | C/A | GWAS | 0.38 | 0.54 | 1.89 (1.51-2.36) | 2.22 × 10−13 |
| MARTHA | 0.37 | 0.51 | 1.75 (1.51-2.03) | 1.20 × 10−13 | ||||
| FARIVE | 0.36 | 0.47 | 1.58 (1.34-1.87) | 5.19 × 10−8 | ||||
| 135,139,050 | rs505922 | T/C | GWAS | 0.35 | 0.52 | 1.91 (1.53-2.39) | 1.48 × 10−14 | |
| MARTHA | 0.35 | 0.49 | 1.81 (1.56-2.11) | 3.72 × 10−15 | ||||
| FARIVE | 0.34 | 0.46 | 1.65 (1.39-1.95) | 7.25 × 10−9 | ||||
| 135,139,543 | rs630014 | G/A | GWAS | 0.47 | 0.37 | 0.64 (0.51-0.80) | 2.0 × 10−7 | |
| MARTHA | 0.49 | 0.38 | 0.66 (0.57-0.76) | 1.21 × 10−8 | ||||
| FARIVE | 0.49 | 0.38 | 0.63 (0.53-0.74) | 5.01 × 10−8 | ||||
| Chromosome, gene . | Position . | rsID . | Alleles* . | Study† . | MAF . | Allelic association‡ OR (95% confidence interval) . | P . | |
|---|---|---|---|---|---|---|---|---|
| Controls . | Cases . | |||||||
| 1, F5 | 167,695,568 | rs1208134 | A/G | GWAS | 0.05 | 0.12 | 2.29 (1.58-3.32) | 3.47 × 10−7 |
| MARTHA | 0.13 | 0.19 | 1.57 (1.31-1.88) | 2.89 × 10−7 | ||||
| FARIVE | 0.07 | 0.09 | 1.31 (0.97-1.78) | 7.90 × 10−3 | ||||
| 167,758,179 | rs2420371 | A/G | GWAS | 0.07 | 0.15 | 2.27 (1.62-3.18) | 8.08 × 10−10 | |
| MARTHA | 0.16 | 0.21 | 1.39 (1.17-1.64) | 3.00 × 10−5 | ||||
| FARIVE | 0.07 | 0.10 | 1.44 (1.07-1.93) | 1.80 × 10−3 | ||||
| 9, ABO | 135,129,086 | rs657152 | C/A | GWAS | 0.38 | 0.54 | 1.89 (1.51-2.36) | 2.22 × 10−13 |
| MARTHA | 0.37 | 0.51 | 1.75 (1.51-2.03) | 1.20 × 10−13 | ||||
| FARIVE | 0.36 | 0.47 | 1.58 (1.34-1.87) | 5.19 × 10−8 | ||||
| 135,139,050 | rs505922 | T/C | GWAS | 0.35 | 0.52 | 1.91 (1.53-2.39) | 1.48 × 10−14 | |
| MARTHA | 0.35 | 0.49 | 1.81 (1.56-2.11) | 3.72 × 10−15 | ||||
| FARIVE | 0.34 | 0.46 | 1.65 (1.39-1.95) | 7.25 × 10−9 | ||||
| 135,139,543 | rs630014 | G/A | GWAS | 0.47 | 0.37 | 0.64 (0.51-0.80) | 2.0 × 10−7 | |
| MARTHA | 0.49 | 0.38 | 0.66 (0.57-0.76) | 1.21 × 10−8 | ||||
| FARIVE | 0.49 | 0.38 | 0.63 (0.53-0.74) | 5.01 × 10−8 | ||||
Common/minor alleles observed in controls.
In the GWAS study, the number of controls and cases were 1228 and 419. In MARTHA and FARIVE, corresponding numbers were 801 and 1150, and 607 and 607, respectively.
Allelic OR (95% confidence interval) associated with the minor allele. In GWAS, P values were obtained after correction for stratification using Eigenstrat. In MARTHA and FARIVE, reported P values were obtained using the Cochran-Armitage trend test.