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Table 1.

Lead variants at loci associated with FVII activity when excluding studies that measured FVII antigen from the trans-ancestry meta-analysis

Variant rsID Chr:Pos* Alleles Freq Freq EA§ Freq AA|| β SE P Variance explained, % Closest gene Annotation Discovery status
rs569557 13:113769917 G/A 0.88 0.88 0.88 0.157 0.003 6.4 × 10−600 13.9 F7 Intronic Known
rs867186 20:33764554 G/A 0.10 0.11 0.09 0.057 0.003 3.3 × 10−64 1.6 PROCR Missense Known
rs1260326 2:27730940 T/C 0.39 0.41 0.15 0.024 0.002 2.3 × 10−30 0.7 GCKR Missense Known
rs7935829 11:59942815 G/A 0.39 0.40 0.21 0.018 0.002 6.3 × 10−18 0.4 MS4A6A Intronic Known
rs6532796 4:100042242 G/A 0.70 0.69 0.83 0.016 0.002 2.6 × 10−13 0.3 ADH4 Downstream Known
rs1149616 11:76498369 T/C 0.17 0.17 0.16 0.017 0.003 1.7 × 10−10 0.2 TSKU Intronic Known
rs10761784 10:65308750 A/T 0.53 0.51 0.67 0.013 0.002 6.7 × 10−10 0.2 REEP3 Intronic Novel
rs498475 7:28256240 G/A 0.42 0.38 0.74 0.012 0.002 1.5 × 10−8 0.2 JAZF1-AS1 ncRNA Novel

The variance explained shown in this table was calculated using the sample size weighted mean variance of log-transformed FVII and the betas and frequencies from the trans-ancestry meta-analysis summary statistics.

AA, African ancestry; Chr, chromosome; EA, European ancestry; Freq, frequency; ncRNA, noncoding RNA; Pos, position; rsID, reference SNP cluster ID; SE, standard error.

*

The Chr:Pos column shows the chromosome and position (build 37).

The Alleles column shows the FVII-increasing allele/FVII-decreasing allele.

The Freq column shows the frequency of the FVII-increasing allele.

§

The Freq EA column shows the frequency specifically in participants of European ancestry.

||

The Freq AA column shows the frequency specifically in participants of African ancestry.