Reduces dopamine D2 receptor density in the striatum, affecting reward processing, reinforcement learning, and addiction susceptibility

Promoter variant at position -429 in the AGER gene 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

Missense variant in the ATM DNA-damage kinase associated with increased radiation sensitivity and mildly altered genomic stability signaling

Intronic/promoter-region ADIPOQ variant where the A allele reduces circulating adiponectin, blunting insulin sensitization and raising cardiovascular and metabolic risk

Intronic FBN1 variant associated with elevated thoracic aortic dissection risk through altered fibrillin-1 microfibril structure and TGF-β1 bioavailability

Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB-epsilon protein, leading to heightened NF-κB inflammatory signaling; the G allele is associated with rheumatoid arthritis susceptibility across multiple ancestries

Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ovarian response to LH stimulation, PCOS risk, ovarian aging, and IVF outcomes

A common missense and splicing variant in TYK2 that promotes exon 8 inclusion and mildly enhances TYK2 expression, conferring protection against multiple autoimmune diseases including SLE, rheumatoid arthritis, type 1 diabetes, and psoriasis

Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated serum bilirubin and is associated with lower risk of cardiovascular disease and type 2 diabetes through bilirubin's antioxidant actions.