Missense variant in SLC22A4 encoding the organic cation/ergothioneine transporter OCTN1; the T allele (503F) increases ergothioneine transport efficiency and forms part of the IBD5 two-locus TC risk haplotype associated with Crohn's disease and other inflammatory conditions; strongly enriched in Europeans

Intronic variant near the MEF2C transcription factor locus associated with increased risk of major depressive disorder

Intronic NR3C1 variant associated with longevity in Polish nonagenarians and centenarians; the C minor allele correlates with better survival rates and altered cholesterol metabolism

Strongly increases risk of age-related macular degeneration through impaired complement regulation on retinal cells and drusen formation

Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2 expression, elevating susceptibility to adolescent idiopathic scoliosis and predicting brace treatment failure

Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance, adipogenesis, and fatty acid oxidation

Synonymous variant in PIWIL1 associated with increased epithelial ovarian cancer risk in southern Chinese women; the AA genotype confers a roughly 5.7-fold elevated risk in case-control data.

Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increased endometriosis susceptibility across multiple GWAS meta-analyses; the C allele acts as a cis-eQTL increasing VEZT expression in blood and endometrial tissue, implicating disrupted adherens junction integrity in ectopic endometrial implantation

5' UTR variant in RBP4 that influences expression of retinol binding protein 4, an adipokine associated with insulin resistance and type 2 diabetes susceptibility when elevated

3'UTR variant creating a functional polyadenylation site; A allele produces a shorter, more stable IRF5 mRNA isoform driving higher IRF5 protein levels and autoimmune disease risk