Regulatory variant downstream of the NPR3 gene that reduces natriuretic peptide clearance receptor expression in vascular smooth muscle and endothelial cells

Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carriers develop Mucopolysaccharidosis IVA (Morquio syndrome A), a severe skeletal lysosomal storage disorder; heterozygous carriers are clinically unaffected

3' UTR variant that modulates baseline C-reactive protein levels and inflammatory status

3' UTR variant in the type 1 deiodinase gene associated with markedly increased cardiac mortality after myocardial infarction

Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygosity causes acrodermatitis enteropathica, a rare but fully treatable zinc malabsorption disorder

Intronic PTPN22 variant independently associated with psoriasis and ankylosing spondylitis, operating through a distinct mechanism from the established R620W risk allele

Nonsense variant in sepiapterin reductase that abolishes BH4 biosynthesis, causing dopamine and serotonin deficiency in the brain; homozygosity leads to DOPA-responsive dystonia (SPR deficiency, OMIM

Pathogenic nonsense variant in protein S that eliminates the anticoagulant cofactor through a premature stop codon, causing autosomal dominant hereditary protein S deficiency and a markedly elevated lifetime risk of venous thromboembolism

Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, determining disease phenotype and predicting differential response to biologic therapy

Regulatory variant in IRF4 enhancer affecting melanocyte pigmentation, sun sensitivity, freckling, and melanoma susceptibility