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. Author manuscript; available in PMC: 2023 Jun 20.
Published in final edited form as: Genet Med. 2021 Nov 30;24(1):87–99. doi: 10.1016/j.gim.2021.08.012

Figure 4. Variants associated with variable expressivity have a wide distribution of Bayesian prevalence ratio (BayPR) probabilities.

Figure 4

A, B. Data are jittered for display purposes only; precise allele counts and BayPR probabilities are provided in Supplemental Table 1. A. A total of 41 CFTR variants with disease assignment of varying clinical consequences are plotted by BayPR probabilities and CFTR2 allele count and show a wide distribution. Of those, 16 variants have probabilities <20%, 17 variants have probabilities >80%, and 8 have probabilities between 20% and 80%. B. A total of 58 PAH variants associated with MHP are plotted by BIOPKU allele count and BayPR probabilities and show a wide distribution. Of those, 44 have probabilities >80% and 5 variants have probabilities <10%; the remaining 9 variants fall between 20% and 80% probability of belonging to the disease-causing component. CFTR2, Clinical and Functional Translation of CFTR; MHP, mild hyperphenylaninemia.