Table 2 Significantly overrepresented gene ontology (GO) domains and terms
GO CategoryAll SNPsaAll gQTLsbClass I g×eQTLsc
FrequencyFrequencyP-valuedFrequencyP-Valued
GO domains
 Cellular component0.6920.68510.6960.028
 Biological process0.7550.7900.0870.7714.2 × 10−6
 Molecular function0.8190.8420.230.8253.0 × 10−6
GO termse
 GDP binding7.1 × 10−56.2 × 10−31.9 × 10−41.2 × 10−23.2 × 10−9
 Sequence-specific DNA binding transcription factor activity2.5 × 10−26.4 × 10−24.1 × 10−37.5 × 10−21.3 × 10−4
 Ribosomal small subunit biogenesis3.4 × 10−32.7 × 10−27.7 × 10−63.3 × 10−27.3 × 10−3
 90S preribosome5.3 × 10−32.7 × 10−21.6 × 10−33.3 × 10−27.3 × 10−3
  • a Total number of SNPs is 28,220.

  • b Total number of gQTLs is 482.

  • c Total number of class I g×eQTLs is 9952.

  • d Based on a binomial test followed by multiple-testing correction. gQTLs are compared with all SNPs while class I g×eQTLs are compared with all gQTLs.

  • e Shown are GO terms significantly enriched in both gQTLs (relative to all SNPs) and class I g×eQTLs (relative to gQTLs).