Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a G-U wobble base pair that enhances Drosha cleavage, increasing miR-548ac while reducing CD58 mRNA — the mechanistic anchor of the CD58 MS-risk haplotype

Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling in regulatory T cells, conferring pleiotropic risk for both allergic disease (asthma, hay fever, eczema) and Crohn's disease through impaired immune tolerance

Key enzyme for converting folate to its active methylfolate form

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

Intronic INSR variant associated with PCOS susceptibility and metabolic syndrome risk through altered insulin receptor signaling

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

Promoter variant that reduces APOC3 expression, associated with lower triglycerides, favorable lipoprotein profiles, and enrichment in centenarians

Missense variant (Pro10Leu) in melanopsin, the photopigment driving circadian photoentrainment; TT carriers show altered light-signaling amplitude and elevated seasonal affective disorder risk

Intronic variant in the PGC-1alpha gene linked to population-specific type 2 diabetes risk and mitochondrial biogenesis regulation

Rare protective intronic variant in the master immune transcription factor NF-κB1; the T allele is associated with reduced lung cancer susceptibility and altered innate immune signaling