Intronic CBS variant that tags the CBS locus in GWAS studies; associated with altered homocysteine metabolism capacity and one-carbon methylation efficiency

Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin levels — adds locus-depth coverage of the TMPRSS6 iron-regulation axis beyond the primary Ala736Val missense variant

Regulatory variant upstream of IL12B associated with increased risk of multiple sclerosis, psoriasis, and primary biliary cholangitis

Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most replicated blood pressure GWAS hits; the common A allele reduces calcium efflux efficiency in vascular cells, raising blood pressure ~1 mmHg per allele

3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity; the C allele strengthens microRNA-mediated ESR1 repression while the T allele weakens it, raising ESR1 protein levels and increasing premenopausal breast cancer risk

Regulatory variant at the TMEM18 locus on chromosome 2p25.3 — one of the most replicated obesity GWAS signals — modulating hypothalamic appetite suppression via the paraventricular nucleus

Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele confers ~6.7% higher ADAMTS13 concentration, boosting VWF-cleaving capacity and reducing thrombotic risk — AA homozygotes have the lowest genetically determined ADAMTS13 activity

Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing anti-inflammatory IL-10 production and raising susceptibility to inflammatory bowel disease, lupus, and Sjögren's syndrome

Missense variant in the TACI receptor's cysteine-rich ligand-binding domain that dominantly disrupts BAFF/APRIL signaling; the strongest non-HLA association with infection susceptibility and a known cause of common variable immunodeficiency and IgA deficiency

Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~6.47-fold increased colorectal cancer risk