Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B cell differentiation and plasma cell output, associated with rheumatoid arthritis and systemic sclerosis susceptibility

Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with earlier natural menopause (approximately 0.17 years per allele copy) by influencing expression of a meiosis-specific centromere protein essential for primordial follicle survival

Third independent CTSS-locus atopic dermatitis risk signal from the Budu-Aggrey 2023 GWAS; G allele associated with OR 1.25 for eczema risk through a distinct regulatory mechanism acting on cathepsin S expression in antigen-presenting cells

A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stability and skeletal muscle PTP1B expression, amplifying negative regulation of the insulin receptor and contributing to insulin resistance.

Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore formation, IL-1β release, and microglial neuroinflammation, associated with mood disorders and chronic pain severity

Downstream regulatory variant of glutathione synthetase (GSS) associated with reduced glutathione production capacity and poorer survival in chemotherapy-treated lung cancer patients

Intronic/promoter-region ADIPOQ variant where the A allele reduces circulating adiponectin, blunting insulin sensitization and raising cardiovascular and metabolic risk

Intronic CYP2C9 haplotype tag associated with altered warfarin sensitivity and NSAID metabolism in Asian populations

Aryl hydrocarbon receptor variant in the transactivation domain that alters AHR signaling, affecting CYP1A2 inducibility, caffeine metabolism patterns, and circadian clock interactions

Downstream regulatory variant affecting LPL expression and triglyceride clearance — the A allele increases LPL activity and lowers plasma triglycerides