For the purposes of annotation, all signals were expanded to include SNVs in LD. LD was calculated within the UK Biobank full genetic dataset using PLINK (v1.9). All variants with an r2 ≥ 0.8 within 500 kb downstream or upstream of the SNVs of interest were identified. These variants were annotated using ANNOVAR [vJun2015 (19)]. ANNOVAR functionally annotates variants, provides their conservation score, identifies SNVs that may cause protein-coding changes and reports their damaging prediction scores. Various prediction scores are available in ANNOVAR, including SIFT, PolyPhen and MutationTaster, among others.
