Vitamin D receptor — affects how well vitamin D activates cellular processes

Synonymous CYP2D6 variant that causes allele dropout in standard CYP2D6*3 genotyping assays, potentially masking co-inherited non-functional alleles

Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing the first rate-limiting step in converting dietary LA to GLA (omega-6) and ALA to stearidonic acid (omega-3), resulting in lower circulating EPA levels in T allele carriers

Intronic regulatory variant in ELK3 influencing circulating TSH levels and hypothyroidism susceptibility

ADH1B*3 variant encoding a superactive alcohol dehydrogenase found almost exclusively in people of African descent, providing strong independent protection against alcoholism by accelerating the conversion of ethanol to acetaldehyde

Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB — the G allele lowers IL-6 signalling but is less common in long-lived individuals

Autophagy gene variant affecting bacterial clearance in gut epithelial cells, strongly associated with Crohn's disease risk

Missense variant in sorting nexin 19; the A allele was associated with elevated coronary heart disease risk in a prospective cohort study and confirmed as one of five common risk variants in the ARIC validation

Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enzyme production, affecting extracellular matrix remodeling in connective tissue and adipose tissue

Exon 10 missense variant in the inflammasome regulator pyrin, converting methionine to isoleucine at codon 694; one of five founder FMF mutations, associated with familial Mediterranean fever and colchicine responsiveness — particularly prevalent in East Asian FMF patients and Lebanese founder lineages