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Table S3 from Genomic architecture and functional effects of potential human inversion supergenes

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posted on 2022-05-09, 12:35 authored by Elena Campoy, Marta Puig, Illya Yakymenko, Jon Lerga-Jaso, Mario Cáceres
Table S3. Summary of GWAS signals associated with the 8p23.1 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) (, release 2021-10-22, v1.0). Only GWAS signals in high LD (r2 ≥ 0.8) with the inversion in the European (EUR) population 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.


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    Philosophical Transactions of the Royal Society B: Biological Sciences