Table 3 summarizes the locations of these genetic variants within each gene. The highest numbers of variants are within introns (353). The second most abundant group of variants is found in CNS (317). These include highly conserved non-coding sequences that were chosen through phylogenetic footprinting (within±15 kb of the candidate genes), and 1500 bp upstream of the transcriptional start sites. Furthermore, we found 128 variants in 5′ and 3′ UTRs and seven within 6 bp of exon-intron junctions (splice site variants). Within the coding region of our candidate genes, we found 54 non-synonymous and 76 synonymous variants. All of these are SNPs, with one exception; a Leu-Leu-Ala deletion in exon 1 of APOB. The 80 coding variants that are represented in dbSNP are, on average, more common (average MAF 19%) than our 50 novel coding SNPs (average MAF 1.6%).
