Table 6.

Top-ranking associations of the rare variants identified through the SKAT-O test regarding the Moderate-severe anxiety in HR patients, N=124.

Gene	SNVs tested		MAF	P value SKAT-O	FDR-BH	11/12+22		11	12+22	P value Fisher test	OR [95% CI]
	position (hg19)	rs number
PCMTD1	chr8:52732981 *	rs201786115	0.013	9.4E-06	0.03						21.5 (4.4–105.9) *
	chr8:52733110		0.008
	chr8:52733164	rs149898988	0.021			Significant combination of collapsed variants **
	chr8:52733209	rs202074278	0.022			91/9	Affected	5 (50.0%)	5 (50.0%)	4E-04
	chr8:52733214 *	rs200377849	0.025				Unaffected	86 (95.6%)	4 (4.4%)
	chr8:52733227 *		0.016
CYP2W1	chr7:1024855 *	rs3735684	0.038	1.3E-05	0.03	Individual contribution *					21.9 (4.2–114.8) *
	chr7:1024874		0.005			85/8	Affected	6 (54.5%)	5 (45.5%)	4E-04
	chr7:1024921		0.005				Unaffected	79 (96.3%)	3 (3.7%)

PCMTD1: Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 1; CYP2W1: Cytochrome P450 Family 2 Subfamily W Member 1; SNV: single nucleotide variation; MAF: minor allele frequency; FDR-BH: Benjamini–Hochberg false discovery rate; OR: odds ratio; CI: confidence interval.

^*SNVs that are identified as the most important contributors to the association signal are highlighted.

^**Collapsed variants (carriers of at least one of rare variants were included into the model, variants with missing values were excluded.

Genotypes were recoded as follows:11-homozygote wild type; 12-heterozygote variant; 22-homozygote variant.