3'UTR variant in the reduced folate carrier that affects miR-595 binding, altering cellular folate and methotrexate uptake efficiency

Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk allele (major, ~83% globally) impairs cyclin-dependent kinase inhibitor expression and reduces beta-cell proliferative capacity, increasing type 2 diabetes risk by ~24% per allele

Intronic variant near the cholecystokinin B receptor gene associated with restless legs syndrome risk through dopaminergic signaling in the basal ganglia

Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associated with reduced paclitaxel metabolism and increased repaglinide exposure

Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–intron boundary, causing desmosomal haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic right ventricular cardiomyopathy

Intronic IL23R variant in strong linkage disequilibrium with the functional R381Q variant (rs11209026); the minor G allele tags the protective haplotype that dampens IL-23 receptor signalling, reducing risk for ankylosing spondylitis, Crohn's disease, ulcerative colitis, and psoriasis

3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expression in nasal epithelium; the A allele is a risk factor for asthma, atopic dermatitis, and elevated IgE, and co-defines the high-risk genotype together with rs2289277

Intronic PPARG variant significantly associated with circulating vitamin D levels and longitudinal change in insulin sensitivity

3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the circadian clock in the suprachiasmatic nucleus; the G allele is associated with earlier chronotype (morningness)

3' UTR variant that modulates baseline C-reactive protein levels and inflammatory status