Pathogenic missense variant in emerin that weakens nuclear lamina interactions, causing X-linked Emery-Dreifuss muscular dystrophy with progressive cardiac conduction defects and cardiomyopathy

Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the Leu variant reduces enzyme activity and responsiveness to selenium

CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered epoxyeicosatrienoic acid metabolism and hydroxychloroquine-related renal adverse effects

Intergenic variant near SOX17 at 8q11 that reduces expression of this endothelial transcription factor, increasing susceptibility to intracranial aneurysm and cerebrovascular instability.

Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, associated with elevated type 1 diabetes risk via modulation of T-cell immune responses

Intronic ADIPOR2 variant associated with cardiovascular disease risk in individuals with impaired glucose tolerance, influencing adiponectin receptor 2 signaling and hepatic lipid and glucose metabolism

Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG expression and elevated atopic dermatitis risk — strongly enriched in East Asian populations where the G allele reaches 57% frequency

Strongly protective variant against inflammatory bowel disease and other autoimmune conditions through impaired IL-23 signaling

Common leptin receptor variant in the leptin-binding domain affecting satiety signaling and metabolic regulation

Master regulator of cellular oxygen response influencing endurance capacity, training adaptability, and injury resilience in athletes