Intronic variant in the gene encoding the inhibitory synaptic adhesion protein IgSF9b, which organizes GABAergic synapses in the centromedial amygdala and modulates anxiety-relevant inhibitory signaling

Promoter variant that increases leptin gene expression in adipose tissue, elevating circulating leptin and raising obesity, insulin resistance, and metabolic syndrome risk

Promoter variant that controls PON1 transcription; the T allele reduces PON1 expression by ~2-fold, lowering the anti-atherogenic enzyme activity on HDL particles and increasing vulnerability to LDL oxidation

Intronic NOS3 variant associated with ankle-brachial index and peripheral arterial disease risk in hypertensive adults; G allele linked to lower peripheral blood flow

Upstream regulatory variant in TSLP reducing cytokine expression; the protective T allele lowers TSLP production 2.5-fold and is associated with reduced risk of asthma and allergic rhinitis

Gain-of-function missense variant in the P2X7 ATP-gated receptor that increases receptor expression and ion channel activity, heightening neuroinflammation and linked to mood disorders, pain sensitization, and infection severity

Intronic variant in KCNQ1's imprinted region, tagging the same LD block as established East Asian T2D susceptibility variants that impair insulin secretion through altered Kv7.1 potassium channel function in pancreatic beta cells

3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk from acetaminophen, isoniazid, ethanol, and occupational solvents

5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, reducing C1-INH expression under immune stress and acting as a severity modifier for complement-mediated inflammatory conditions and sleep disruption

Intronic CD36 variant that reduces CD36 expression, impairing postprandial fat sensing and lipid clearance with dose-dependent effects on circulating sCD36 and LDL particle numbers.