Upstream promoter variant in fibrinogen beta chain that increases IL-6-driven FGB transcription, raising plasma fibrinogen levels and amplifying cardiovascular and thrombotic risk

Component of the MRN complex essential for DNA double-strand break repair, telomere maintenance, and cell cycle checkpoint signaling; this variant alters the BRCT domain and modestly impairs DNA damage response

Intronic IFNG variant that modulates interferon-gamma expression, with the T allele linked to elevated IFN-γ secretion, greater IBD disease severity, and altered susceptibility to tuberculosis and other immune-mediated conditions

Kozak sequence variant at position −1 of the CD40 start codon — the C allele boosts translational efficiency, producing ~30% more CD40 protein and increasing susceptibility to Graves' disease; the T allele reduces CD40 expression and independently elevates risk for multiple sclerosis and Crohn's disease

Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with higher fasting triglycerides, higher LDL cholesterol, and elevated cardiovascular risk through reduced ANGPTL3-pathway LPL activity

3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availability, influencing how the body responds to levothyroxine therapy and how well inactive T4 is converted to active T3 in tissues

Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate to alanine at position 5 of the protein; the G allele (Asp5Ala) is associated with later age at natural menopause by approximately 0.35 years per copy, implicating DNA replication priming fidelity in the rate of ovarian follicle depletion

Second PNPLA3 missense variant that reduces hepatic PNPLA3 mRNA and protein expression by ~50%, independently associated with NAFLD and elevated liver enzymes, and modifies the risk conferred by the co-located I148M variant (rs738409).

Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk allele is associated with a 28% increased risk of periodontitis through altered neutrophil defensin availability in the gingival immune response

Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 causing congenital sick sinus syndrome through altered channel inactivation kinetics; also reported in association with Brugada syndrome and dilated cardiomyopathy