We identified clinically relevant PTV-phenotype associations such as FLG, whose protein product contributes to the structure of epidermal cells, and eczema/dermatitis (MAF = 0.48%, p = 6.7 × 10−15, OR = 1.80, 95% CI: 1.55–2.08)28 and TSHR, thyroid-stimulating hormone receptor, and hypothyroidism/myxedema (MAF = 0.046%, p = 1.2 × 10−13, OR = 3.30, 95% CI: 2.41–4.53)29. The gene discussed is TSHR; the disease is myxedema.