GWAS obesity locus near KCTD15 — modulates adipogenesis through AP-2 transcription factor regulation

Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation and autoimmune disease susceptibility

Primary intestinal and renal vitamin C transporter — variant reduces ascorbate absorption and reabsorption efficiency

Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 binding, driving paradoxical hyperactivation of Th17 responses and psoriasis susceptibility

Intronic regulatory variant near the lymphotoxin beta receptor gene influencing LTBR expression and alternative NF-κB-driven immune signaling

Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinity estrogen receptor alpha binding site, upregulating WNT4 in endometrial stromal cells; the T allele is associated with increased endometriosis and uterine fibroid risk through enhanced stromal invasibility, while the C allele associates with pelvic organ prolapse risk — an example of antagonistic pleiotropy in reproductive tissue biology

Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PROS1; homozygotes develop severe neonatal protein S deficiency with life-threatening thrombosis, and heterozygotes carry partial deficiency with meaningfully elevated VTE risk

Intronic PCOS susceptibility variant near TOX3; the G allele is associated with increased PCOS risk, insulin resistance, and altered metabolic features in affected women

Promoter variant that increases angiotensinogen gene transcription, raising plasma AGT levels and contributing to hypertension risk

Upstream regulatory variant in the URAT1 urate reabsorption transporter gene; the C allele increases SLC22A12 expression and renal urate reabsorption, elevating serum uric acid and gout risk, with the strongest effects in East Asian and African populations where the C allele predominates