Table 1.

Characterization of the statistically significant variants in WES gene-based tests.

#DISCOVERY DATASET														REPLICATION DATASET
GENE	CHR	POS	ID	AF	ExAC_AF	SISU_AF	Gene_P	Gene_P_Bonf	Gene_OR	Gene_OR_ci	Single_Var_OR	Single_Var_OR_ci	AC	AF	AC	POWER
MPHOSPH10	2	71361156	rs143555311	1.27E-03	0.002	0.0013	3.46E-06	0.044	1.526	1.266–1.839	NA	(NA-NA)	2	0.005	2	3.9e-06
ANKRD36	2	97858622	rs201600563	1.27E-03	0.0014	0.0003	1.58E-04	1.000	1.022	0.998–1.047	NA	(NA-NA)	2	0.0076	3	NA
GPR126	6	142758601	.	1.27E-03	4.14E-05	0.0008	1.42E-06	1.000	1.056	1.016–1.098	NA	(NA-NA)	2	0.005	2	1.4e-04
TAS2R19	12	11174795	rs12424373	4.44E-03	0.05	0.0039	8.53E-07	0.011	1.043	1.012–1.075	0.995	0.869–1.139	7	0.0125	5	5.3e-7
SERPINA1	14	94845944	rs141620200	0.019670051	0.0023	0.0019	9.23E-11	1.18E-06	1.075	1.035–1.117	1.268	1.179–1.364	31,1	0.01	4	0.29
SERPINA1	14	94847262	rs17580	8.25E-03	0.02	0.0083	9.23E-11	1.18E-06	1.075	1.035–1.117	0.972	0.888–1.063	13	0.0125	5	1.4e-06
ZNF519	18	14105770	rs61730995	0.011435832	0.0051	0.0053	5.05E-06	1.000	1.123	1.063–1.185	0.963	0.896–1.036	18	0.01	4	4.7e-06

Table shows variants found in both the discovery and replication datasets. Discovery dataset; cases, N=185; controls, N=480. Replication dataset; cases, N=200.

Key: Gene, gene symbol where variant is located; Chr, chromosome; Pos, Genome position (Grch37); ID, variant RS-number; AF, minor allele frequency; ExAC_AF, Exome aggregate consortium allele frequency for all populations; SISU AF, SISU project (Lim et al., 2014) database allele frequencies; Gene_P, P value in Burden test; Gene_P_Bonf, Bonferroni correction for P value; Gene_OR, estimated odds ratio in Burden test; Gene_OR_ci, Confidence interval for Gene OR; Single_Var_OR, estimated odds ratio for single variant; Single_Var_OR_ci, Confidence interval for single variant OR; AC, minor allele count; Power, statistical power of single variant given known allele frequency.