Intronic NUCB2 variant associated with type 2 diabetes risk in females and oral cancer progression in older males — the T allele modestly reduces nesfatin-1 signaling efficiency

Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin looping in keratinocytes — the C (risk) allele is associated with psoriasis susceptibility, linking type III interferon receptor signaling and epidermal barrier transcription factor control at the same locus

Intronic upstream variant in FCGR2A that modulates surface expression of the FcγRIIa immune receptor on myeloid cells, altering IgG immune complex clearance efficiency and autoimmune susceptibility

Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A allele reduces TRAF1 expression, amplifying NF-kB-driven inflammation and increasing rheumatoid arthritis risk in Europeans

Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering serum FSH levels and impairing folliculogenesis in females and spermatogenesis in males

Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with increased myocardial infarction risk

Intronic variant in SCARB1 that affects SR-BI receptor function and the intestinal and hepatic uptake of fat-soluble vitamin E (alpha-tocopherol) and carotenoids from HDL particles

Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele associates with increased atrial fibrillation risk

Most common VLCAD deficiency variant in the US, causing mild late-onset disease with exercise-induced rhabdomyolysis and fasting intolerance due to partial loss of mitochondrial fatty acid oxidation

Intronic tag SNP in the vitamin D binding protein gene, influencing circulating 25-hydroxyvitamin D levels and supplementation response