Intronic LIPG variant that tags a haplotype associated with higher LDL cholesterol and apolipoprotein B, with effects on lipid profiles that are substantially modified by physical activity

Missense variant in SPINK5 encoding LEKTI domain 6 (p.Lys420Glu) that increases furin-mediated cleavage of the LEKTI precursor, impairing the strongest-activity inhibitory fragment D6–D9, elevating kallikrein protease activity, and increasing susceptibility to early-onset atopic dermatitis

Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and cognitive impairment

Upstream CYP2C19 variant associated with altered R-warfarin clearance

Intronic variant in betaine-homocysteine methyltransferase gene associated with selenium levels but no known disease risk

Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele is associated with elevated total and LDL cholesterol in lean men

Intronic FKBP5 variant in the stress-aging haplotype block — T allele carriers show impaired HPA axis negative feedback

Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase activity and the efficiency of converting linoleic acid and alpha-linolenic acid into long-chain omega-6 and omega-3 fatty acids

Missense variant in gasdermin B that increases GSDMB expression and pyroptotic activity in airway epithelial cells, with the G (reference) allele conferring elevated childhood asthma risk through enhanced epithelial cell inflammatory death

Intronic variant in PTK2 (focal adhesion kinase) linked to restless legs syndrome through disrupted neuronal circuit development and sensory-motor signaling