Table 2 Summary of the effects of SNPs identified by eGWAS and ASE, and their relative proportions in the larger population of a given SNP category (%)

3’UTR variant

47 (1.47%)

1.71 × 10⁻⁶*

5’UTR variant

5 (0.16%)

5.95 × 10⁻¹

Downstream gene variant

150 (4.7%)

9.03 × 10⁻⁷*

Intergenic variant

1606 (50.5%)

4 × 10⁻⁵⁶*

Intronic variant

1083 (34%)

1.4 × 10⁻²²*

Missense variant

28 (0.87%)

1.79 × 10⁻³*

Non-coding exon variant

3 (0.09%)

1.80 × 10⁻¹

Splice region variant

7 (0.21%)

3.70 × 10⁻¹

Stop lost

1 (0.03%)

4.42 × 10⁻¹

Stop retained variant

4 (0.13%)

4.78 × 10⁻²*

Synonymous variant

68 (1.19%)

3.45 × 10⁻⁴*

Upstream gene variant

182 (5.7%)

1.92 × 10⁻⁸*

Mature miRNA variant

0

Splice acceptor variant

0

Stop gained

0

Splice donor variant