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Fig. 1 | Genome Medicine

Fig. 1

From: Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Fig. 1

Significant association of SOX17 with PAH-CHD. a Quantile-quantile plot showing results of test of rare variant association in 17,701 genes, using 143 cases of European ancestry and 7509 gnomAD whole genome sequencing subjects of non-Finnish European ancestry. The association of SOX17 is genome-wide significant following Bonferroni correction for multiple testing. b Table of all genes with p value < 0.001 in the association tests. False discovery rate (FDR) was estimated using Benjamini-Hochberg procedure. LGD, likely gene-disrupting; D-mis, damaging missense defined as REVEL score > 0.5

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