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Table 3 Common variant association results.

From: Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes

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
  1. MAF indicates minor allele frequency; OR, odds ratio; CI, confidence interval; Na, not applicable (the variant does not cause protein sequence changes).