Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an independent triglyceride-lowering association; the rare T allele is linked to lower fasting triglycerides and reduced metabolic syndrome risk.

Mu-opioid receptor variant affecting opioid response, pain sensitivity, and potentially naltrexone efficacy

Promoter variant at position -429 in the AGER gene that increases RAGE transcription, elevating membrane RAGE and altering soluble sRAGE levels; associated with higher inflammatory signaling through the AGE-RAGE-NF-κB axis and linked to diabetic complications, cancer susceptibility, and sepsis risk

Beta-1 adrenergic receptor variant at position 49 affecting receptor downregulation kinetics, resting heart rate, heart failure prognosis, and endurance exercise capacity

Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C allele (common globally) tags a complement-dysregulation haplotype, while the rare A allele (GRCh38 reference) is protective

Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-1 at genome-wide significance; the G allele may favor lower IGF-1 and stronger FOXO3 pathway activation

Intronic ABCG1 variant near the promoter region; homozygous carriers of the minor A allele showed a 36% lower odds of coronary artery disease in a Chinese Han cohort, suggesting a modest protective effect linked to the ABCG1 cholesterol efflux locus.

Regulatory variant in the PSCA 5′ UTR that recruits the repressor YY1 to the promoter, suppressing PSCA expression in gastric epithelium and increasing susceptibility to diffuse-type gastric cancer and gastric mucosal atrophy

Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; biallelic carriers develop peroxisomal fatty acid oxidation failure causing either severe neonatal DBP deficiency or Perrault syndrome; heterozygous carriers are clinically unaffected but carry reproductive risk

Promoter SNP near 5-HTTLPR that modifies serotonin transporter expression and antidepressant response