Deep intronic IL6R variant associated with atopic dermatitis risk and systemic IL-6 signaling, with the G allele elevating eczema risk while reducing inflammatory cardiovascular markers through altered IL-6 receptor expression or splicing

Increased function CYP2C19 variant - rapid/ultrarapid metabolizer

Autophagy regulator affecting bacterial clearance in the gut and Crohn's disease susceptibility

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

Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk in APOE ε4 carriers by limiting pathological fibronectin accumulation at the blood-brain barrier

ADH1C variant defining the fast (ADH1C*1, Arg272) vs slow (ADH1C*2, Gln272) alcohol dehydrogenase isoforms; ADH1C*1 metabolizes ethanol ~2.5x faster, elevating cancer risk in heavy drinkers, while ADH1C*2 slows metabolism

Promoter variant affecting adiponectin secretion and metabolic syndrome risk

Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expression and activity, impairing conversion of dietary omega-6 and omega-3 precursors to arachidonic acid and EPA respectively; independently associated with plasma triglyceride levels and omega-3/omega-6 fatty acid ratios.

Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T allele reduces circulating CXCL12 chemokine levels and confers protection against coronary artery disease

Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase; the A allele (Gly209Ser) reduces SCAD enzyme activity and is classified as benign to likely-benign and is not a cause of clinical SCAD deficiency