Table 7.
Association between SNPs in/near known hemostatic candidate genes, and the corresponding phenotypes
| Candidate Gene | SNP | CHR | Physical Position (bp)* | MAF | Position to Gene | Function | Phenotype† | GEE Association Pvalue |
|---|---|---|---|---|---|---|---|---|
| F7 | rs561241 | 13 | 112,808,035 | 0.12 | NEAR | unknown | FVII, exam 5 | 4.5 × 10-16 |
| FGG | rs2066864 | 4 | 155,883,300 | 0.19 | IN | intron | Fibrinogen, average | 0.239 |
| FGG | rs2066864 | 4 | 155,883,300 | 0.19 | IN | intron | Fibrinogen, exam 5 | 0.711 |
| FGG | rs2066864 | 4 | 155,883,300 | 0.19 | IN | intron | Fibrinogen, exam 6 | 0.095 |
| FGG | rs2066864 | 4 | 155,883,300 | 0.19 | IN | intron | Fibrinogen, exam 7 | 0.586 |
| FGG | rs1074801 | 4 | 155,933,889 | 0.49 | NEAR | unknown | Fibrinogen, average | 0.667 |
| FGG | rs1074801 | 4 | 155,933,889 | 0.49 | NEAR | unknown | Fibrinogen, exam 5 | 0.898 |
| FGG | rs1074801 | 4 | 155,933,889 | 0.49 | NEAR | unknown | Fibrinogen, exam 6 | 0.521 |
| FGG | rs1074801 | 4 | 155,933,889 | 0.49 | NEAR | unknown | Fibrinogen, exam 7 | 0.608 |
| ITGB3 | rs4525555 | 17 | 42,692,948 | 0.31 | IN | intron | Platelet Aggregation, ADP, exam 5 | 0.231 |
| ITGB3 | rs4525555 | 17 | 42,692,948 | 0.31 | IN | intron | Platelet Aggregation, Collagen, exam 5 | 0.375 |
| ITGB3 | rs4525555 | 17 | 42,692,948 | 0.31 | IN | intron | Platelet Aggregation, epinephrine, exam 5 | 0.292 |
| ITGB3 | rs10514919 | 17 | 42,697,128 | 0.24 | IN | intron | Platelet Aggregation, ADP, exam 5 | 0.495 |
| ITGB3 | rs10514919 | 17 | 42,697,128 | 0.24 | IN | intron | Platelet Aggregation, Collagen, exam 5 | 0.331 |
| ITGB3 | rs10514919 | 17 | 42,697,128 | 0.24 | IN | intron | Platelet Aggregation, epinephrine, exam 5 | 0.302 |
| ITGB3 | rs2015729 | 17 | 42,709,492 | 0.36 | IN | intron | Platelet Aggregation, ADP, exam 5 | 0.326 |
| ITGB3 | rs2015729 | 17 | 42,709,492 | 0.36 | IN | intron | Platelet Aggregation, Collagen, exam 5 | 0.919 |
| ITGB3 | rs2015729 | 17 | 42,709,492 | 0.36 | IN | intron | Platelet Aggregation, epinephrine, exam 5 | 0.963 |
| SERPINE1 | rs6950982 | 7 | 100,360,038 | 0.18 | NEAR | unknown | PAI1, average | 0.187 |
| SERPINE1 | rs6950982 | 7 | 100,360,038 | 0.18 | NEAR | unknown | PAI1, exam 5 | 0.035 |
| SERPINE1 | rs6950982 | 7 | 100,360,038 | 0.18 | NEAR | unknown | PAI1, exam 6 | 0.688 |
| SERPINE1 | rs6956010 | 7 | 100,360,470 | 0.19 | NEAR | unknown | PAI1, average | 0.218 |
| SERPINE1 | rs6956010 | 7 | 100,360,470 | 0.19 | NEAR | unknown | PAI1, exam 5 | 0.053 |
| SERPINE1 | rs6956010 | 7 | 100,360,470 | 0.19 | NEAR | unknown | PAI1, exam 6 | 0.740 |
| VWF | rs917858 | 12 | 5,952,199 | 0.32 | IN | intron | wVW, exam 5 | 0.398 |
| VWF | rs917859 | 12 | 5,952,374 | 0.32 | IN | intron | wVW, exam 5 | 0.413 |
| VWF | rs2239138 | 12 | 5,952,819 | 0.32 | IN | intron | wVW, exam 5 | 0.487 |
| VWF | rs216901 | 12 | 5,975,129 | 0.48 | IN | intron | wVW, exam 5 | 0.297 |
| VWF | rs216903 | 12 | 5,975,760 | 0.48 | IN | intron | wVW, exam 5 | 0.316 |
| VWF | rs216904 | 12 | 5,976,279 | 0.34 | IN | intron | wVW, exam 5 | 0.584 |
* Physical position is in base pair (bp) and based on the May 2004 human reference sequence (NCBI Build 35).
†'NEAR' means within 60 kb to a gene; 'IN' means within a gene.
††Phenotypes are multivariate adjusted residuals.