Pathogenic missense variant in the regulatory myosin light chain gene; heterozygous carriers face substantially elevated risk of hypertrophic cardiomyopathy and warrant cardiac evaluation and cascade screening of first-degree relatives

Intronic ABCA1 variant influencing HDL-cholesterol levels through altered ABCA1 expression; the A allele is associated with modestly reduced HDL.

Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production and is associated with NAFLD risk, iron loading parameters, and age-related macular degeneration in subgroup analyses

Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, associated with atopic dermatitis severity, psoriasis susceptibility, and modulated innate immune responses to bacterial and fungal ligands

Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevated plasma CXCL12 levels and increased coronary artery disease risk in European GWAS and replication cohorts

Intronic FUT2 proxy variant tagging secretor status — whether ABO blood group antigens are secreted into body fluids; influences human milk oligosaccharide composition, infant gut microbiome colonisation, and mucosal immunity

Most-studied oxytocin receptor variant, influencing empathy, social sensitivity, stress resilience through social buffering, and emotional regulation

Missense variant in von Willebrand factor (p.Asp141Gly) associated with type 1 von Willebrand disease; heterozygous and homozygous carriers may have reduced VWF activity and increased bleeding tendency requiring hematology evaluation

Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequilibrium (r²=0.95) with rs1866813, a remote cis-regulatory variant that increases NCK1 expression in glomerular podocytes, elevating risk of diabetic nephropathy in type 1 diabetes patients

Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impairs NF-kB negative feedback, increasing susceptibility to rheumatoid arthritis and multiple autoimmune diseases