Intronic variant in the ZnT1 zinc efflux transporter gene; the minor C allele (plus-strand) tags a regulatory haplotype that may modestly reduce SLC30A1 expression or function, potentially lowering the efficiency of basolateral zinc export from intestinal enterocytes into the portal circulation and impairing the zinc-flux capacity of macrophages and other cells that depend on ZnT1 for intracellular zinc homeostasis

Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding and immune cell calcium signaling, associated with lupus, Graves' disease, and rheumatoid arthritis risk

Intronic NR3C2 variant associated with salt sensitivity of blood pressure and 14-year hypertension incidence, likely modulating mineralocorticoid receptor expression in the distal nephron.

Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic activity and associates with higher circulating endothelin and adrenomedullin surrogate markers — vasoactive peptides predictive of cardiac stress and heart failure

UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-sensitive hypertension, and gout risk with paradoxical kidney stone protection

Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that substitutes glycine for aspartate at a conserved structural position; classified benign for Lynch syndrome, but carriers transmit significantly more germline microsatellite de novo mutations to offspring, reflecting subtly reduced mismatch repair fidelity in germ cells

3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of the TACGC cardiovascular risk haplotype associated with premature myocardial infarction and coronary artery disease

Regulatory variant that reduces MBOAT7 expression in the liver, impairing phosphatidylinositol remodeling and increasing risk of NAFLD, liver fibrosis, and hepatocellular carcinoma

Intergenic enhancer variant near MYC oncogene — modestly increases colorectal and prostate cancer susceptibility via Wnt signaling

Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated with elevated systolic blood pressure; the T allele was identified as a suggestive hypertension signal in the Wellcome Trust GWAS and replicated in Korean and European cohorts. KCNK9 encodes a background K⁺ channel in adrenal zona glomerulosa cells that regulates aldosterone secretion.