Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovascular risk haplotype, while the rare A allele confers partial protection against coronary heart disease and myocardial infarction

Intronic SGK1 variant associated with depression susceptibility in coronary heart disease patients, linking glucocorticoid-regulated kinase signaling to the cardiovascular-psychiatric comorbidity axis

Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1.09) via altered cytokine signaling in the JAK-STAT pathway

Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling

Promoter variant in the fibrinogen beta-chain gene that upregulates FGB transcription, raising plasma fibrinogen levels and increasing cardiovascular and thrombotic risk

Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, high-affinity) for arginine (R131, low-affinity) at the IgG2-binding site, altering immune complex clearance efficiency and modulating risk for lupus nephritis, Kawasaki disease, and biologic therapy response

Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing type I interferon production and increasing autoimmune disease risk

Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with higher fasting triglycerides, higher LDL cholesterol, and elevated cardiovascular risk through reduced ANGPTL3-pathway LPL activity

Missense variant in VWF at codon 1381 (Thr→Ala); the Ala allele (C on plus strand) is the global majority allele and is associated with higher circulating von Willebrand factor levels and elevated thrombotic risk

Missense variant in the DNA damage recognition gene XPC that moderately reduces nucleotide excision repair capacity, with elevated risk for bladder and breast cancer, particularly in homozygous carriers and those with carcinogen exposure