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. 2021 Sep 28;20(1):48–57. doi: 10.1111/jth.15530

TABLE 1.

Genome‐wide significant (P‐value <5 × 10−8) loci for thrombin generation traits

Trait Top SNP Gene Chr Position (bp) Effect/alternative allele MAF Beta P‐value
nETP‐TMsr rs4241819 KLKB1 a , b , c 4 186235986 T/C 0.485 0.36 4.27 × 10−8
nPeak‐TMsr rs4241819 KLKB1 a , b , c 4 186235986 T/C 0.484 0.37 1.97 × 10−8
ETPTM+ rs404479 RP11‐315I14.2 a 9 23479588 T/G 0.433 0.46 4.03 × 10−8

Abbreviations: Chr, chromosome; ETPTM+, endogenous thrombin potential in presence of thrombomodulin; MAF, minor allele frequency; nETP‐TMsr, normalized sensitivity ratio of endogenous thrombin potential to thrombomodulin; SNP, single‐nucleotide polymorphism.

a

Genes close to thrombin generation associated SNPs.

b

eQTL effect of thrombin generation associated SNPs based on publicly available databases. 31 , 32

c

Missense in linkage disequilibrium variants (rs3733402).