Mutational load analysis of unrelated individuals

BMC Proceedings

Table 3 Whole-exome minor allele load results

Procedure	Number of SNPs	Minor allele load		Sex		Ethnicity
		Odds ratio	p-value	Odds ratio	p-value	Odds ratio	p-value
All SNPs	24,487	1.296	2.05 × 10⁻³	1.096	0.28	1.405	7.15 × 10⁻⁵
MAF ≥ 0.05	3,126	1.247	8.63 × 10⁻³	1.093	0.30	1.514	1.59 × 10⁻⁵
MAF < 0.05	21,361	1.338	1.25 × 10⁻³	1.088	0.32	1.289	6.12 × 10⁻³
MAF < 0.01	18,175	1.326	2.68 × 10⁻³	1.093	0.30	1.274	0.018
Inverse weighting	24,287	1.329	1.22 × 10⁻³	1.095	0.29	1.323	1.71 × 10⁻³
Nonsynonymous	13,572	1.287	2.36 × 10⁻³	1.090	0.31	1.426	3.17 × 10⁻⁵
Synonymous	10,113	1.311	1.81 × 10⁻³	1.099	0.27	1.360	4.06 × 10⁻⁴
BLOSUM weighting	24,487	1.296	2.00 × 10⁻³	1.094	0.29	1.404	7.38 × 10⁻⁵

Each row represents a different minor allele load procedure. The number of SNPs analyzed depends on the inclusion threshold or functional category for each procedure.

ISSN: 1753-6561