A2 domain missense variant in von Willebrand factor associated with type 2A von Willebrand disease; the proline substitution destabilizes the A2 domain, increasing susceptibility to ADAMTS13 proteolysis and depleting high-molecular-weight multimers required for platelet adhesion

Intronic PXK variant; the G allele is a replicated GWAS risk allele for systemic lupus erythematosus in Europeans, acting through impaired receptor endocytosis and disrupted B-cell immune signalling

Intronic SLC2A9 variant tagging a urate-transport regulatory haplotype; the protective T allele (~48% global frequency) is enriched in populations with lower gout prevalence and is associated with more efficient renal urate clearance, while the risk C allele — common in East Asians (~90%) where gout prevalence is highest — tags reduced GLUT9-mediated reabsorption efficiency and elevated serum uric acid

Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG but mapping to the CYP19A1 RefSeqGene locus; associated with breast cancer histological grade and tumor size in a Swedish cohort, consistent with its position in the aromatase regulatory zone

Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain causing impaired LDL receptor processing and familial hypercholesterolemia with severely elevated LDL-C and premature coronary artery disease risk

Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1) that marks the HLA-DP haplotype controlling antigen-presenting cell surface expression; the G allele is strongly associated with chronic hepatitis B infection susceptibility and impaired hepatitis B vaccine antibody response across multiple populations

An intronic variant in the DENND1A locus on chromosome 9q33.3, a robustly replicated PCOS susceptibility region; the A allele tags regulatory variation that drives DENND1A overexpression in theca cells, elevating androgen biosynthesis

Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, amplifying the alarmin signal through the ST2 receptor and raising susceptibility to asthma, allergic rhinitis, hay fever, and eosinophilic airway inflammation

Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls neuronal clusterin expression; the protective T allele elevates CLU transcription, enhancing amyloid-beta clearance across the blood-brain barrier and reducing Alzheimer's disease risk

Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; the T risk allele is associated with substantially elevated risk of myocardial infarction, brain aneurysm, and type 2 diabetes through ANRIL-mediated dysregulation of cellular senescence and beta-cell proliferation