Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on the same haplotype, together reducing LPS-driven innate immune signaling and altering gram-negative bacterial recognition

Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorrin glycosylation and is one of the strongest genetic determinants of circulating vitamin B12 levels

Regulatory variant in serotonin 2A receptor gene affecting SSRI side effects and potentially treatment response

Intronic PPARD variant that independently impairs hepatic fat mobilization during lifestyle intervention; C-allele carriers show smaller reductions in liver fat regardless of how much total body fat they lose, linking this locus specifically to ectopic liver lipid regulation rather than general adiposity

Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele is associated with increased risk of Crohn's disease and shared pleiotropic risk for psoriasis through immune cell expression of CDKAL1

Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with increased coronary artery disease risk and post-ACS cardiovascular mortality through impaired one-carbon unit supply

Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kinase) associated with uterine fibroid risk in multiple GWAS

Influences episodic memory performance and hippocampal function through the KIBRA protein's role in synaptic plasticity

Synonymous MTRR variant (c.1911G>A) associated with congenital heart disease risk in offspring and maternal carriers

Missense variant in the extracellular domain of the IL-4 receptor alpha chain that increases IL-4 signaling sensitivity; the Val75 (G) allele is found in 80% of allergic bronchopulmonary aspergillosis patients and elevates IgE-driven Th2 immune responses in asthma and atopic disease