Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene inducibility, producing more carcinogen-activating enzyme in oral and airway tissues upon tobacco smoke or dietary PAH exposure

3'UTR variant in the folate transporter gene affecting pemetrexed toxicity risk and potentially SLC19A1 expression

Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor expression in pancreatic beta cells, influencing cAMP levels, insulin granule docking, and fasting glucose

Intronic variant in the AMPA glutamate receptor gene GRIA4 associated with restless legs syndrome risk via hyperglutamatergic thalamic excitability

No-function variant causing deficient thiopurine methylation; most common TPMT deficiency allele in East Asian and African populations

Independent CTSS-locus GWAS signal for atopic dermatitis on chromosome 1q21.3; T allele associated with OR 1.18 for eczema risk through altered cathepsin S expression in antigen-presenting cells and PAR2-driven itch signalling

PPARG 3'-flanking region variant — the G allele independently tags a PPARG regulatory haplotype associated with altered TZD (thiazolidinedione) insulin-sensitizing drug response and modified type 2 diabetes risk in lifestyle intervention cohorts

Pathogenic truncating variant in cardiac myosin-binding protein C causing haploinsufficiency; heterozygous carriers develop hypertrophic cardiomyopathy through sarcomere dysfunction from reduced functional cMyBP-C levels

Circadian clock gene variant affecting fasting glucose, hepatic lipid metabolism, and seasonal metabolic responses

Regulatory variant upstream of the IL-23 receptor gene more strongly associated with psoriatic arthritis than cutaneous psoriasis alone, implicating distinct Th17 signaling at the joint versus skin interface