Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to gram-positive bacteria and mycobacteria, increasing susceptibility to tuberculosis, sepsis, and staphylococcal infections

Missense variant in the FTCD enzyme that impairs one-carbon unit transfer from histidine catabolism into the folate pool, reducing arsenic methylation efficiency and increasing toxicity risk

Intronic variant in the cannabinoid receptor 1 gene that modulates substance dependence vulnerability through a gene-gene interaction with rs806368; the G allele increases risk for drug and alcohol dependence and sits in a completely independent LD block from the rs806368/rs1049353 haplotype

Intronic variant in DAB2IP associated with increased risk of abdominal aortic aneurysm, myocardial infarction, and peripheral arterial disease

Intronic variant in the mitochondrial biogenesis regulator NRF2, associated with endurance athletic performance and intermittent exercise capacity

Intronic IL23R variant in which the T allele increases susceptibility to Crohn's disease, ulcerative colitis, and ankylosing spondylitis, while the G allele is protective — independent of the rs2201841 risk signal at the same locus

Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevated systolic and diastolic blood pressure; the G allele has been linked in large GWAS to modestly higher blood pressure and, through shared genetic architecture, to increased susceptibility to preeclampsia and other hypertensive disorders of pregnancy

Intronic CADM2 variant genome-wide significant for information processing speed; the C allele is associated with slower reaction time and cognitive throughput, while T carriers show faster symbol-digit substitution performance

Intronic NOS3 variant associated with ankle-brachial index and peripheral arterial disease risk in hypertensive adults; G allele linked to lower peripheral blood flow

Upstream regulatory variant in TSLP reducing cytokine expression; the protective T allele lowers TSLP production 2.5-fold and is associated with reduced risk of asthma and allergic rhinitis