Table S2 from Genomic architecture and functional effects of potential human inversion supergenes

Table S2. Summary of GWAS signals associated with the 17q21.31 inversion. Potential inversion effects on phenotypes were estimated through linkage disequilibrium (LD) with GWAS variants reported in the GWAS Catalog database (P value < 10-8) (http://www.ebi.ac.uk/gwas/, release 2021-10-22, v1.0). Only GWAS signals in high LD (r2 ≥ 0.8) with the inversion in the European (EUR) or global population (GLB) were included in the analysis, depending on which population was used for the GWAS. Risk allele frequency (RAF) or minor allele frequency (MAF) of each variant according to the GWAS Catalog is indicated. Reported phenotypic traits have been grouped manually in different related categories and the PubMed ID (PMID) of the supporting study is shown.

表 S2. 与 17q21.31 倒位相关的 GWAS 信号概要。通过连锁不平衡（LD）与 GWAS 目录数据库中报道的 GWAS 变异（P 值 < 10-8）估计潜在倒位效应对表型的 影响（http://www.ebi.ac.uk/gwas/，发布日期 2021-10-22，版本 1.0）。仅包括与欧洲（EUR）或全球人群（GLB）中的倒位高度连锁（r2 ≥ 0.8）的 GWAS 信号，具体取决于用于 GWAS 的种群。根据 GWAS 目录，指示每个变异的风险等位基因频率（RAF）或次要等位基因频率（MAF）。已手动将报道的表型性状分组于不同的相关类别中，并展示支持研究的 PubMed ID（PMID）。