In order to prioritize associated SNVs, we use an integrative bioinformatics approach to collate functional annotation (Supplementary Table 30) at both the variant and gene level for each SNV within the BP loci (all SNVs in LD r2 ≥ 0.8 with the BP-associated SNVs). At the variant level we use ANNOVAR67 to obtain comprehensive functional characterization of variants, including gene location, conservation and amino acid substitution impact based on a range of prediction tools including SIFT and polyphen2. All nonsynonymous variants were predicted damaging by two or more methods.
