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Chunk #57 — Methods — Defining the study-wide significant cut-offs for collapsing analyses

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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
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exact test statistics corresponding to the synonymous collapsing model. At the tail of this distribution, we identified two genuine relationships: MACROD1 synonymous variants correlating with decreased levels of ‘Urate’ (P = 2.8 × 10−30)56 and ALPL synonymous variants correlating with decreased levels of ‘alkaline phosphatase’ (P = 9.3 × 10−9)57. Following this, we saw a tail of P values beginning from P = 5.2 × 10−8 (Supplementary Table 20).