Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nat Genet · 2014 · PMC4169222 · PMID 24633158

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0.0009

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nominally significantP = 9×10 −4actually significant

However, for three genes, the strength of association with a burden of rare variants was more significant than observed for a single variant test, and in each case, a second nominally significant SNP was observed; LIPG p.Arg476Trp for HDL cholesterol (MAF = 0.18%, P = 9×10 −4 ), LIPC p.Arg208His for LDL cholesterol (MAF = 0.16%, P = 0.02), and ANGPTL4 p.Arg336Cys for triglycerides (MAF = 0.24%, P = 0. 01).

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