. Author manuscript; available in PMC: 2016 Sep 22.

Published in final edited form as: Genet Med. 2016 Feb 11;18(9):906–913. doi: 10.1038/gim.2015.187

Table 2.

Genetic Association Analysis Using EHR-Derived Phenotypes^a

Phenotype Variant (locus)	Number		Reported OR	Risk Allele	OR (95% CI)^b	P^b
Phenotype Variant (locus)	Cases	Controls	Reported OR	Risk Allele	OR (95% CI)^b	P^b
CVD	1947	4824
rs10757278 (9p21)			1.3^6,8	G	1.2 (1.09–1.29)	0.000074
rs1333049 (9p21)			1.3^9,10	C	1.2 (1.09–1.28)	0.000098
T2DM	2306	679
rs4506565 (TCF7L2)			1.4^7,12 1.5¹¹	T	1.4 (1.18–1.60)	0.000017
rs7903146 (TCF7L2)			1.4¹²	T	1.4 (1.20–1.60)	0.0000067
Obesity	534	895
rs9939609 (FTO)			1.3^7,15,17	A	1.4 (1.18–1.63)	0.000064
rs17782313 (MC4R)			1.2¹⁹	C	1.3 (1.06–1.54)	0.0092

Cases and controls were identified by applying validated phenotype algorithms to EHR data. CVD, cardiovascular disease; T2DM, type 2 diabetes mellitus; OR, odds ratio; CI, confidence interval

Additive genetic model