Intronic IL6R variant associated with coronary artery disease risk, elevated inflammatory markers (CRP, LDL, ApoB), and altered response to IL-6 receptor-blocking biologics (tocilizumab, sarilumab); the T allele tags a haplotype with subtly enhanced classical IL-6 signaling

Regulatory variant upstream of MC4R associated with increased caloric intake, elevated BMI, and obesity risk through reduced MC4R satiety signaling

Promoter variant that increases CTLA-4 transcription; T allele carriers show better response to abatacept in rheumatoid arthritis and may have modestly altered autoimmune susceptibility

Nonsense mutation creating a premature stop codon in von Willebrand factor; heterozygotes have VWD type 1 (partial VWF deficiency) and homozygotes have VWD type 3, the most severe bleeding disorder caused by near-complete absence of VWF

Rare missense variant in the keratinocyte NF-κB scaffold protein CARD14 that may predict favorable response to anti-TNF biologic therapy in psoriasis patients

Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with moderate-to-severe endometriosis risk; the C allele increases risk (OR 1.21) by modulating IL-1α-driven peritoneal inflammation, adhesion formation, and ectopic endometrial tissue implantation

Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene; the A allele is enriched in European populations and lies approximately 4.8 kb from the established urate-GWAS signal rs11942223, suggesting potential haplotype co-tagging with known SLC2A9 uric acid regulatory signals; direct evidence for an independent effect on serum urate is currently absent, and the variant has no GWAS associations or published citations as of 2026

Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expression on B cells and regulatory T cells, increasing susceptibility to rheumatoid arthritis, Graves' disease, systemic lupus erythematosus, and Hashimoto's thyroiditis

Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 associated with salt sensitivity of blood pressure; A allele carriers show amplified blood pressure responses to high dietary sodium.

Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor T allele is associated with higher serum DHT levels, with implications for androgenetic alopecia severity, prostate growth, and response to 5-alpha-reductase inhibitors