Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associated with uterine fibroid risk; the common T allele is linked to modestly higher fibroid susceptibility while the rarer C allele appears protective, likely through effects on SIRT3 expression and mitochondrial oxidative-stress defence in uterine smooth muscle

Intronic PTPN2 variant whose G allele reduces T-cell protein tyrosine phosphatase (TC-PTP) activity, amplifying JAK-STAT signaling and conferring susceptibility to psoriasis and related autoimmune conditions

Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptibility signal at 6q23.3, tagging a regulatory haplotype distinct from the rheumatoid arthritis and lupus signals at the same locus, and predicting better response to TNF inhibitor therapy

A frameshift deletion in VWF that truncates von Willebrand factor from position 1649; heterozygous carriers are at risk for type 1 von Willebrand disease with reduced VWF levels and mucocutaneous bleeding, most prevalent in Northern European populations

Transmembrane domain missense variant in TACI that abolishes NF-κB signaling, impairing B-cell class switching and antibody production; associated with common variable immunodeficiency and selective IgA deficiency

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