Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Out of these 22 variant sets, 12 were in genes implicated in Mendelian disorders affecting red blood cells (for example EPB42 and TFR2 ; see Supplementary Table 15 ) and an additional five had highly significant associations with red blood cell traits in our data (p ≤ 7.82 × 10 –7 ; Supplementary Table 16 ).

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Several of the variant sets significant in our primary analysis were nominally significant in the other populations.

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