Table 2.

Novel Low-Frequency Coding Variations Showing Significant Association with Coronary Artery Disease.

Locus and SNP	Chromosome and Nucleotide Position*	Allele 1/Allele 2	Frequency of Allele 1 %	Functional Effect	Stage	Odds Ratio†	P Value
SVEP1 rs111245230	9: 113169775	C/T	3.60	p.D2702G	Discovery	1.14	1.1×10−7
					Replication	1.13	1.0×10−3
					Combined‡	1.14	4.2×10−10
ANGPTL4 rs116843064	19: 8429323	A/G	2.01	p.E40K	Discovery	0.87	3.0×10−5
					Replication	0.86	3.4×10−4
					Combined‡	0.86	4.0×10−8

^*Chromosome numbers and positions refer to genome build GRCh37.

^†Odds ratios are for the development of disease in carriers of allele 1. P values for testing differences between the effects observed in the discovery and replication results were 0.73 for rs111245230 and 0.11 for rs116843064 (Cochran's Q test for heterogeneity).

^‡The combined stage refers to a meta-analysis that included 72,868 patients with coronary artery disease and 120,770 controls free from the disease.