Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repressor-binding site in the open chromatin region controlling thymic TSHR expression; the T allele allows stronger PLZF binding, reduces intrathymic TSHR levels, impairs central immune tolerance to thyroid antigens, and confers susceptibility to Graves' disease

Missense variant in ZIP4 zinc transporter causing total loss of intestinal zinc absorption when homozygous; responsible for classical acrodermatitis enteropathica

Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, causing renal hypouricemia type 1 with very low serum uric acid and risk of exercise-induced acute kidney injury

Pathogenic missense in antithrombin III; the A allele causes type II heparin-binding-site (HBS) antithrombin deficiency with homozygotes facing severe, often childhood-onset thrombophilia

Missense variant in the SCAP cholesterol-sensor gene (Val798Ile)

Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly in women; the C allele is the risk allele for reduced HDL-cholesterol levels

Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fructose-6-phosphate, constitutively activating hepatic glucokinase and producing the characteristic trade-off of lower fasting glucose and insulin resistance against higher triglycerides, CRP, and NAFLD risk

Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is available for conversion to vitamin D3 in the skin

Missense variant in the XPD helicase that reduces nucleotide excision repair fidelity, modestly increasing susceptibility to UV-induced and carcinogen-induced DNA damage across multiple cancer types

Intronic variant in kallikrein-related peptidase 4 gene affecting susceptibility to dental caries in primary dentition