Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is the strongest common genetic determinant of lower circulating estradiol in postmenopausal women, acting through altered aromatase expression in peripheral tissues.

Intronic WNK1 variant where the G allele is associated with increased essential hypertension risk while the minor T allele is protective; WNK1 is the master kinase controlling renal sodium-chloride reabsorption through the NCC cotransporter

Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxicity, strongly reducing kidney disease risk in carriers of G2-containing high-risk genotypes

Rare pathogenic nonsense variant in the LDL receptor gene that abolishes receptor function, causing receptor-negative familial hypercholesterolemia with severely elevated LDL-C and high premature coronary artery disease risk

3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation and increasing risk for chronic hepatitis B infection; also linked to multiple sclerosis and modulates rheumatoid arthritis risk through a dose-dependent trade-off in immune activation

Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy receptor levels, amplifying IL-33 signaling and increasing susceptibility to asthma, hay fever, and atopic disease

Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, reflecting reduced thyroid transcriptional activity; the same gene drives pancreatic beta cell development, linking thyroid-axis regulation to metabolic energy balance

Phase II detoxification enzyme that conjugates glutathione to carcinogens, drugs, and oxidative stress products; this variant alters the active site geometry, changing substrate specificity

Influences episodic memory performance and hippocampal function through the KIBRA protein's role in synaptic plasticity

Deep intronic CYP2C9 variant associated with altered drug response to sulfonylurea antidiabetics and other CYP2C9 substrates