We obtained annotations (missense, synonymous, regulatory, and splice region) by using the Variant Effect Predictor tool,35 which queries annotation from the Ensembl website. ENCODE transcription factor (TF) binding and DNase I hypersensitivity peaks were obtained from RegulomeDB.24 Conservation scores obtained from PhyloP36 (phyloP100way) software were downloaded from the UCSC Genome Browser. Motif-disrupting sites were downloaded from HaploReg (v.2).37 Variant allele frequency was based on phase 1 of the 1000 Genomes Project38 as calculated across European populations.