Table 2.

Statistics for novel nonsynonymous singleton mutations in EFR3A

Cohorts ( n )		PhyloP ≥ 1.3 b	GERP ≥ 5 c	ConSurf < 0 d	Deleterious by crystal
Cases (2,196)	Number of mutationsa	17 (0.77%)	14 (0.64%)	12 (0.55%)	6 (0.27%)
Controls (3,389)	Number of mutations	9 (0.27%)	9 (0.27%)	8 (0.24%)	1 (0.03%)
	Pe	0.006	0.030	0.049	0.017
	Odds ratio	2.930	2.410	2.322	9.282
	95% confidence interval	1.234–7.109	0.979–6.032	0.885–6.214	1.119–204.784

^aThe initial de novo mutation was not included in calculations of mutation burden but was in calculations involving severity.

^bPhyloP ≥ 1.3 indicates P = 0.05 for conservation.

^cGERP ≥ 5 [16].

^dConSurf < 0 indicates conservation.

^eAll P values are calculated by Fisher exact test, right-tailed. P ≤ 0.05 are in bold.

GERP, genomic evolutionary rate profiling; PhyloP, phylogenetic P values.