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Chunk #57 — Methods — PheWAS in humans

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Joint mouse-human phenome-wide association to test gene function and disease risk.
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We then performed PheWAS for missense SNPs for each of the target genes from the mouse PheWAS that had minor allele frequencies >1% and passed quality control filters of SNP call rate >95% and sample call rate >99% in unrelated samples. SNPs were found for ENPTD2 (rs34618694), COL6A5 (rs1353613, rs79867908, rs12488457, rs113396273, rs35886424, rs1453241, rs1497312, rs11917356, rs76864445, rs16827497, rs16827168, rs819085, rs9883988 and rs61744488), AHR (rs2066853), ALAD (rs1800435) and HDH3 (rs1043836). No SNPs were available for FH1.