Table 3.

Single Nucleotide Polymorphisms (SNPs) with P<1x10⁻⁵ in the Case-Control Genome-Wide Association Study (GWAS) in Mothers of Case Infants in the Discovery Cohort with Results from the GWAS in the Discovery and Replication Cohorts and the Meta-Analysis Results, National Birth Defects Prevention Study, 1997-2011.

						Discovery					Replication					Meta
Chromosome	SNP	Position	Locus	Minor Allele†	Major Allele	N	MAF‡	OR§	SE¶	P	N	MAF‡	OR§	SE¶	P	OR§	P
2	rs4850063	4332775	2p25.3	G	A	1696	0.34	0.70	0.08	8.87x10−6	1078	0.35	1.01	0.10	0.93	0.81	7.51x10−4
5	rs7706812	160312017	5q34	G	T	1695	0.32	1.43	0.08	2.77x10−6	1078	0.35	0.83	0.10	0.07	1.18	8.14x10−3
6	rs9341603	77534953	6q14.1	T	C	1696	0.15	1.59	0.10	1.37x10−6	1078	0.16	1.17	0.13	0.22	1.42	4.49x10−6
8	rs330080	9154609	8p23.1	C	T	1696	0.46	0.72	0.07	6.31x10−6	1077	0.46	0.97	0.09	0.77	0.81	2.00x10−4
11	rs317518	110890363	11q23.1	C	T	1689	0.31	1.41	0.08	6.48x10−6	1075	0.38	0.93	0.09	0.47	1.20	2.33x10−3
16	rs9937546	73003719	16q22.3	C	T	1698	0.25	1.44	0.08	6.79x10−6	1075	0.29	1.08	0.11	0.50	1.29	6.78x10−5

^†Minor allele is effect allele

^‡MAF = minor allele frequency, calculated in controls

^§OR = odds ratio

^¶SE = standard error