Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple sclerosis susceptibility; the common A allele increases MS risk, while the minor G allele is protective

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 higher IL-6 pathway activity, elevated CRP, and increased atrial fibrillation risk

Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulating sphingolipid levels in a metabolomics genome-wide association study

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

Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), identified in the Ruth et al. 2021 Nature GWAS as associated with age at natural menopause; KIF2B encodes a kinesin-13 microtubule depolymerase essential for bipolar spindle assembly during oocyte meiosis

Intronic variant in SLC17A3, encoding the renal apical urate efflux transporter NPT4; the A allele is associated with reduced urate secretory capacity, raising serum uric acid and increasing gout risk

Missense variant in the keratinocyte NF-κB scaffold protein CARD14 that modestly elevates psoriasis susceptibility and strongly predicts favorable response to anti-TNF biologic therapy (adalimumab, etanercept, infliximab)

Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier status relevant for reproductive counseling and newborn screening awareness

Missense variant in the concentrative nucleoside transporter 2 (CNT2) gene that increases intestinal ribavirin absorption, raising serum drug levels and doubling the risk of ribavirin-induced hemolytic anemia during hepatitis C treatment; also modulates purine nucleoside bioavailability in liver and gut