Modulates local cortisol activation from cortisone in liver and adipose tissue, influencing visceral fat, insulin sensitivity, and metabolic syndrome risk

Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circulating vitamin D-binding protein levels through altered glycosylation of DBP

Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription factor binding site that limits monocyte inflammation via a TGFβ1 pathway, dampening pro-inflammatory cytokines and conferring mortality resilience

Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with altered SULT1E1-related outcomes; the C allele, enriched in East Asian populations, has been linked to worse colorectal cancer survival and may influence local estrogen bioavailability through effects on SULT1E1 expression regulation

Intronic PTPN22 variant in a transcription factor-binding site, associated with type 1 diabetes in Asian populations where the R620W coding variant is absent

Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility region for coronary artery disease and periodontitis; the C allele elevates inflammatory signaling through ANRIL dysregulation and increases susceptibility to aggressive and chronic periodontitis

Nonsense variant eliminating filaggrin protein — a minor European FLG null allele that acts as a compound heterozygote partner to the major European FLG mutations in atopic dermatitis and ichthyosis vulgaris

Variant reducing SLC6A15 expression in hippocampus; AA carriers show increased susceptibility to major depression and hyperactive HPA stress responses

Long non-coding RNA regulating erythropoiesis, influencing hemoglobin levels and oxygen transport capacity in endurance athletes

Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sarcoplasmic reticulum coupling and impairs calcium-induced calcium release, causing hypertrophic cardiomyopathy