Many of the significant ExWAS signals arose from rare variants (MAF < 0.5%) (Fig. 1b). The rarest significant variant was a frameshift variant in haemoglobin subunit-β (HBB) associated with thalassaemia (cohort MAF of 0.0013%) (Supplementary Table 3). In the dominant model, rare variants accounted for 26% of statistically significant associations. Furthermore, 21% (227 of 1,088) of binary trait associations and 12% (1,330 of 10,770) of quantitative trait associations identified using the recessive model were not detected using the dominant model. Associations with more common variants have previously been published9,12.
