Intronic PTPN2 variant increasing susceptibility to Crohn's disease, rheumatoid arthritis, and juvenile idiopathic arthritis

Intronic WNK1 variant where the G allele is associated with increased essential hypertension risk while the minor T allele is protective; WNK1 is the master kinase controlling renal sodium-chloride reabsorption through the NCC cotransporter

APOE E2 variant - generally protective for cardiovascular health

Rare pathogenic missense variant in cardiac troponin T causing calcium desensitization and autosomal dominant dilated cardiomyopathy and left ventricular noncompaction

GWAS obesity locus near ETV5

Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced insulin sensitivity and increased type 2 diabetes risk; the G allele impairs adiponectin-driven PPARα and AMPK signaling that governs fatty acid oxidation and hepatic glucose metabolism

Synonymous C3 variant associated with reduced serum complement C3 levels and increased risk for systemic lupus erythematosus through impaired complement-mediated immune complex clearance

Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozygosity with R141H produces the classic PMM2-CDG phenotype with cerebellar hypoplasia, intellectual disability, and multi-organ glycosylation failure

3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation and increasing risk for chronic hepatitis B infection; also linked to multiple sclerosis and modulates rheumatoid arthritis risk through a dose-dependent trade-off in immune activation

Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intracranial aneurysm susceptibility in European and East Asian populations; A allele confers elevated risk through putative effects on SOX17 endothelial transcription factor expression