Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with the C allele independently increasing psoriasis susceptibility (OR 1.23) and showing pleiotropic associations across multiple autoimmune conditions

Missense variant in the VWF A2 domain that destabilizes the protein and increases ADAMTS13 cleavage, causing loss of high-molecular-weight multimers and von Willebrand disease type 2A with mucocutaneous bleeding

Regulatory variant upstream of the endothelin receptor type A gene that reduces EDNRA transcription, impairing endothelin-1-mediated vasoconstriction and increasing susceptibility to intracranial aneurysm

Regulatory variant downstream of SERPINA1 associated with increased susceptibility to ANCA-associated vasculitis (GPA/MPA) and higher mortality in AAV patients

Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bilirubin glucuronidation; homozygotes develop Crigler-Najjar syndrome type II with persistent unconjugated hyperbilirubinemia that responds to phenobarbital treatment

Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-binding globulin levels; the T allele lowers SHBG by ~10–20%, increasing free testosterone and free estradiol bioavailability and elevating risk for PCOS and androgen-driven metabolic dysfunction.

Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial hypercholesterolemia; classified as likely pathogenic by the British Heart Foundation LDLR-LOVD registry

Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated with polycystic ovary syndrome susceptibility; the T allele tags regulatory variation linked to elevated androstenedione and PCOS risk (OR ~1.14), with the strongest effect in NIH-diagnosed PCOS

Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS signal for rheumatoid arthritis susceptibility in the HLA class II region, with among the strongest effect sizes of any common RA variant (OR ~2.47 in Europeans).

Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele is protective against late-onset wheeze and eosinophilic airway inflammation, reducing risk by approximately 26% per C allele copy in European birth cohorts