Long non-coding RNA regulating erythropoiesis, influencing hemoglobin levels and oxygen transport capacity in endurance athletes

Regulatory variant at the TERC locus associated with shorter telomeres and accelerated cellular aging, operating independently of — but overlapping with — the nearby rs12696304 signal

Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovascular risk haplotype via elevated leukotriene production, while the rare A allele confers partial protection against coronary heart disease and myocardial infarction

Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA from plant sources

Intronic regulatory variant modulating FURIN expression via allele-specific DNA methylation, associated with coronary artery disease risk and blood pressure through macrophage and endothelial cell mechanisms

Promoter/5' UTR variant in the serotonin 5-HT5A receptor gene affecting receptor expression, linked to schizophrenia susceptibility and executive function

Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 expression, altering mucosal antimicrobial defense and susceptibility to inflammatory and infectious conditions

Rare intronic variant near a DENND2C splice site associated with an 8-fold increase in type 2 diabetes risk in carriers of European ancestry.

Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardiac myosin-binding protein C that destabilizes domain folding and causes functional haploinsufficiency, leading to hypertrophic cardiomyopathy with early onset and high penetrance.

Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regulated with ESR1; the C allele increases endometriosis risk (OR 1.09) and has been independently replicated across European, East Asian, and Taiwanese-Han populations