TLR9 promoter variant that creates an IL-6-responsive element and estrogen-sensitive transcription site, amplifying innate immune signaling and increasing lymphoma susceptibility while modulating malaria, HCV, and thrombosis outcomes

Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~48%, independently limiting beta-carotene to vitamin A conversion; the top GWAS hit for circulating beta-carotene levels

Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with altered connective tissue integrity and elevated varicose vein risk.

3'UTR variant in the cannabinoid receptor 1 gene that regulates CB1 expression in the brain and modulates vulnerability to cannabis, alcohol, nicotine, and cocaine dependence, as well as impulsivity and emotional reactivity

Regulatory variant in the RANKL gene affecting bone mineral density and osteoporotic fracture risk

Missense variant (Met270Thr) in RNF213, the major moyamoya disease susceptibility gene; the C allele reached genome-wide significance for migraine risk (OR=1.06), linking vascular remodeling genetics to common headache disorders

Intronic variant in RAD51B on chromosome 14; the T allele is associated with increased rheumatoid arthritis risk (OR ~1.10 per allele) in trans-ethnic GWAS, likely through effects on lymphocyte genomic stability and immune cell development mediated by RAD51B's role in homologous recombination DNA repair

Reduces intestinal folate hydrolase activity, impairing absorption of dietary polyglutamyl folates and lowering circulating folate available for methylation

Intronic variant in MATE1, the renal and hepatic metformin efflux transporter; the A allele reduces tubular secretion, prolongs metformin retention, and enhances glucose-lowering response in type 2 diabetes

Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression across 18 tissue types and is enriched in Ashkenazi Jewish centenarians, linking higher SIRT6 activity to improved genomic stability and longevity