Figure 4 | Scientific Reports

Figure 4

From: Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

Figure 4

(A) Bar graph comparing the frequencies of rare JPH2 variants in ostensibly healthy individuals. The gnomAD cohort is broken down into 8 ethnic subgroups. GME Variome and Iranome represent 2 independent Middle Eastern cohorts. No fill, total frequency; tan, missense variant frequency; red, LOF variant frequency. Error bars denote 95% CI; *P < 0.05, **P < 0.001 compared to European (Non-Finnish). (B) Bar graph comparing the frequencies of JPH2 variants in a GME Healthy Cohort (GME Variome + Iranome), an ostensibly healthy population (gnomAD), a cohort of clinical WES referrals at Baylor College of Medicine (WES), a cohort of clinical WES referrals from Iran (WES-Iran), and a population of those diagnosed with HCM. Error bars denote 95% CI; *P < 0.05, **P < 0.001 compared to gnomAD.

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