Table 3 Common variant association results.
Variant information | Discovery | Replication stage 1 and 2 (combined) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Location | Substitution | Gene | Functional annotation | Protein | dbSNP129 | Alleles cases | Alleles controls | p = | Effective sample size cases | MAF cases, % (n) | Effective sample size controls | MAF controls, % (n) | p= | OR | 95% CI |
chr4:155727040 | T > C | FGA | exon - missense | p.T331A | rs6050 | 10 | 4 | 0.004 | 709 | 32 (453) | 702 | 22 (312) | 1.9 × 10-5 | 1.45 | 1.22-1.72 |
chr16:80474413 | A > G | PLCG2 | exon - missense | p.H244R | rs11548656 | 4 | 0 | 0.013 | 711 | 6 (88) | 705 | 6 (83) | 0.73 | 1.05 | 0.77-1.43 |
chr4:122837138 | T > C | ANXA5 | Intron | Na | rs2306416 | 4 | 0 | 0.013 | 139 | 15 (41) | 138 | 15 (42) | 0.97 | 0.96 | 0.60-1.54 |
chr8:42164111 | G > A | PLAT | exon - synonymous | Na | rs1058720 | 11 | 3 | 0.002 | 139 | 47 (131) | 139 | 44 (124) | 0.61 | 1.10 | 0.79-1.54 |
chr11:47311481 | T > C | MYBPC3 | Intron | Na | rs11570115 | 5 | 0 | 0.004 | 137 | 11 (30) | 139 | 9 (26) | 0.63 | 1.19 | 0.68-2.07 |