SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with type 2 diabetes susceptibility, insulin resistance, triglyceride levels, and liver fibrosis risk.

Common regulatory variant in the FLG locus associated with impaired skin barrier function and substantially elevated risk for atopic dermatitis (eczema)

Upstream promoter variant in CETP that tags the HDL-raising haplotype block — C allele carriers have lower HDL cholesterol through modestly increased CETP-mediated cholesterol transfer from HDL to VLDL

Missense variant causing substrate-dependent reduced CYP3A4 activity, most prevalent in Japanese and East Asian populations

Rare PER3 missense variant that co-occurs on the FASPS3 haplotype with Pro415Ala (rs150812083), further destabilizing the circadian clock protein and contributing to advanced sleep phase and seasonal mood vulnerability

Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity at the SLC7A7 intron 6 splice site, causing lysinuric protein intolerance when homozygous — a multisystem recessive disorder of cationic amino acid transport

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