Strongest known genetic determinant of dopamine beta-hydroxylase activity, controlling the dopamine-to-norepinephrine ratio

Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile substitution) reduces urate reabsorption in the proximal tubule, lowering serum uric acid and conferring protection against hyperuricemia and gout

Regulatory variant at the chromosome 13q12 locus that tags a region upstream of USP12, a deubiquitinase controlling CD4+ T cell activation and NF-κB signaling via BCL10 stabilization; the C risk allele increases susceptibility to ulcerative colitis and predicts risk of disease relapse in carriers

Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides, LDL, and total cholesterol, increases NAFLD risk, and is associated with longer sleep duration through a pleiotropic link between hepatic lipid metabolism and sleep regulation

Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces aminopeptidase activity; the T allele tags the low-activity Hap10 haplotype, which is protective against ankylosing spondylitis and psoriasis but recessively increases Behçet's disease risk — especially in HLA-B*51 carriers

An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T allele is associated with PCOS susceptibility (genome-wide significant in a 2018 meta-analysis of 10,074 cases) and with polycystic ovarian morphology, likely through disrupted retinoic acid–responsive transcriptional regulation of follicular development

Eye color modifier gene influencing green and hazel eye color through melanosome pH regulation

Promoter variant in the fibrinogen beta-chain gene that upregulates FGB transcription, raising plasma fibrinogen levels and increasing cardiovascular and thrombotic risk

Promoter variant that alters transcription factor binding and TLR9 expression, affecting innate immune responses to bacterial and viral CpG DNA across infections, autoimmunity, and transplant outcomes

Intronic variant creating alternative splice site that increases type I interferon production and autoimmune disease risk