The functional spectrum of low-frequency coding variation.

First, and as noted by other studies [ 19 , 20 ], we saw a highly significant difference ( P << 10 -16 ) in the AFS of silent versus missense variants (Figure 5a ) with a skew towards rare alleles in the latter, so that approximately 63% of missense variants were <1% in frequency whereas approximately 53% of silent variants fell into this category.

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