Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%; the G allele lowers surface CCR5 density on immune cells, slowing HIV disease progression, while the A allele drives higher CCR5 levels and greater monocyte recruitment to atherosclerotic plaques

TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha production by ~31% and influencing susceptibility to autoimmune disease and biologic treatment response

Gain-of-function missense variant in PCSK9 that increases intracellular LDL receptor degradation, causing autosomal dominant familial hypercholesterolemia

Promoter variant that alters transcription factor binding and TLR9 expression, affecting innate immune responses to bacterial and viral CpG DNA across infections, autoimmunity, and transplant outcomes

A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-binding protein C, found in individuals with hypertrophic and dilated cardiomyopathy; classified as a variant of uncertain significance with conflicting evidence for independent pathogenicity

Intronic EDN1 variant modulating endothelin-1 expression; the T allele associates with elevated ET-1 levels, increased risk of persistent pulmonary hypertension of the newborn, aneurysm rebleeding after subarachnoid hemorrhage, and altered nitric oxide metabolism in women

Synonymous coding variant in transferrin receptor 2 with potential splice-modifying activity, associated with age-related macular degeneration in case-control studies via iron-mediated retinal oxidative stress

Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more efficiently in oocytes, raising SYCP2L expression and supporting primordial follicle survival — the G allele reduces expression and associates with earlier natural menopause

Missense variant in MC4R converting valine to isoleucine at position 103; the I103 allele confers modest but replicable protection against obesity and improves metabolic syndrome components

Upstream regulatory variant near ETV7, an interferon-inducible transcriptional repressor; the common C allele is associated with moderately increased rheumatoid arthritis risk, while the rare A allele is protective