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. 2023 Nov 28;110(12):2092–2102. doi: 10.1016/j.ajhg.2023.11.002

Figure 4.

Figure 4

Gene prioritization for casual variants and genes

(A) GTEx eQTLs of the lead significant variants rs12495172 (chr3:55959628G>A) on CCDC66 expression. The decreased expression of CCDC66 correlates with alternative alleles of rs12495172 (number of individuals is shown below each genotype).

(B) The genotype dosages of the alternative allele of rs12495172. The alternative allele genotype dosages in samples were divided into 3 bins of roughly equal size. The aneuploidy rates among the samples were positively correlated with the alterative allele genotype dosages. The whiskers in the box-whisker plot span a range that is 1.5× the interquartile range (IQR).