Figure 2

Association signal at 3p22.2 for social-communication problems at 17 years of age. (a) Chromosome ideogram for chromosome 3. (b) Regional association plot for rs4453791. Directly genotyped and imputed variants are depicted by filled circles according to their genome-wide -log₁₀P-value and their genomic position in megabases (Mb) (build 36). Recombination rates are shown in blue (HapMapCEU, release 22) and the linkage disequilibrium (LD) (r²) between the lead variant and surrounding markers is indicated by the colour code. (c) Detailed genomic region near rs4453791 depicting variants in LD (r² > 0.3), non-coding functional variation (ENCODE (Encyclopedia of DNA Elements) functionality score ≤2; RegulomeDB: http://regulome.stanford.edu/) and a rare autism related de novo single-nucleotide variant (V483M) within XIRP1, a locus with weak candidacy [44]. The LD (r²) between the lead variant and surrounding SNPs is indicated by the shade of grey (0 (white) to 1 (black)).