Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.

Ann Hum Genet · 2025 · PMC12336941 · PMID 40171628

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highly significantno p-value reported

2024 ) that the minor allele frequency (MAF) of this variant in the non‐FH subjects in the 100,000 genome (general population) sample was 8 × 10 −5 (12 out of 77,275 individuals), with a highly significant enrichment of this variant in a sample of those individuals with clinical FH (10 out of 467 individuals, MAF = 0.01).

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