Table 1. Association of a burden of rare variants in the low-density lipoprotein receptor (LDLR) gene with plasma low-density lipoprotein cholesterol (LDL-C) levels and the risk for early-onset myocardial infarction.

pheno-type	variants analyzed	variant count	allele count	allele freq.	LDL-C >190mg/dl (n = 251)	LDL-C <190mg/dl (n = 1,901)	P-value	OR	95% CI
plasma LDL-C	clear LoF	11	16	0.007	13	3	2×10-10	34.4	9.4–189.7
	all missense	55	127	0.059	35	92	4×10-7	3.2	2.0–4.9
	all missense + LoF	66	143	0.066	48	95	4×10-13	4.5	3.0–6.6
	predicted as damaging	30	48	0.022	22	26	2×10-9	6.9	3.7–12.9
	predicted as damaging + LoF	41	64	0.030	35	29	2×10-17	10.4	6.1–18.1
	disruptive- missense	13	20	0.009	14	6	1×10-9	18.6	6.6–59.6
	disruptive missense + LoF	24	36	0.017	27	9	6×10-19	25.3	11.3–61.8
pheno-type	variants analyzed	variant count	allele count	allele freq.	MI case (n = 1,716)	MI control (n = 1,519)	P-value	OR	95% CI
MI	clear LoF	12	17	0.005	17	0	2×10-5	-	3.7-inf.
	all missense	70	177	0.055	119	58	1×10-4	1.9	1.4–2.6
	all missense + LoF	82	194	0.060	136	58	8×10-7	2.1	1.6–3.0
	predicted as damaging	36	62	0.019	50	12	8×10-6	3.8	2.0–7.8
	predicted as damaging + LoF	48	79	0.024	67	12	3×10-9	5.1	2.7–10.4
	disruptive- missense	14	29	0.009	27	2	5×10-6	12.1	3.0–105.4
	disruptive missense + LoF	26	46	0.014	44	2	2×10-10	20.0	5.2–169.9