Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T allele elevates odds of glaucoma by ~17% per copy through reduced retinal ganglion cell function

Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele impairs IL-4 transcriptional regulation, elevating Th2-skewed inflammatory tone and increasing susceptibility to asthma, allergic rhinitis, and severe infections, while the G allele is associated with reduced atopic disease risk

Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and cognitive impairment; the G allele upregulates alpha-synuclein protein levels and is independent of rs356219

Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carrier expression or splicing, influencing methotrexate transport efficiency and folate uptake across cell membranes

Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affecting metabolism of ~50% of all prescription drugs

Intronic variant in serine racemase that alters D-serine production in pancreatic beta cells, modulating NMDA receptor signaling and glucose-stimulated insulin secretion; C allele associated with increased type 2 diabetes and gestational diabetes risk, particularly in East Asian populations

Regulatory variant 54 kb upstream of the aryl hydrocarbon receptor gene; the strongest GWAS signal for habitual caffeine intake, influencing AHR expression, CYP1A2 inducibility, and caffeine clearance capacity

Intronic variant near LIPG whose T allele increases circulating endothelial lipase levels and is associated with lower HDL cholesterol at genome-wide significance across multiple large cohorts

Missense variant reducing mitochondrial uncoupling efficiency in white adipose tissue, lowering 24-hour energy expenditure and increasing visceral fat accumulation in Val homozygotes

Regulatory variant near the NAF1 telomerase assembly gene associated with shorter telomeres, higher cardiovascular risk, and lower cancer risk