Promoter variant at -487 in HTRA1 that elevates HTRA1 serine protease expression, disrupting TGF-β signaling and extracellular matrix remodeling in the retina and increasing risk of neovascular (wet) age-related macular degeneration

Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme activity and is a leading genetic cause of primary congenital glaucoma, particularly in Middle Eastern, Iranian, and Pakistani populations

Pathogenic missense variant in argininosuccinate lyase that reduces urea cycle enzyme activity to ~12% of normal, causing argininosuccinic aciduria when inherited in biallelic form; heterozygous carriers are typically asymptomatic but carry the allele at reproductive risk

Intronic HMGCR variant that tags a haplotype influencing exon 13 alternative splicing — affecting HMGCR enzyme activity, baseline LDL-C levels, and the magnitude of statin-induced LDL reduction

Ultra-rare TPM1 missense variant of uncertain significance found in hypertrophic cardiomyopathy panels; alters a residue where other pathogenic substitutions are known, but evidence is insufficient for definitive pathogenicity classification

Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminating the final 41 amino acids of the protein and causing biotinidase deficiency when inherited in biallelic form; heterozygotes are asymptomatic carriers

Intronic PLG variant (intron 1) whose C allele is enriched in Europeans and appears in cardiovascular GWAS signals at the PLG/LPA locus; PLG encodes plasminogen, the serine-protease zymogen central to fibrinolysis, macrophage recruitment, and innate mucosal immunity

Promoter variant affecting brain serotonin synthesis enzyme; influences emotional reactivity, anxiety, and depression risk

Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tissue via FOXA binding; the A allele reduces BCAR1 levels and is associated with lower carotid intima-media thickness progression and reduced coronary artery disease risk, with the protective effect strongest in women

A synonymous FUT2 proxy variant in strong LD with the W143X nonsense allele (rs601338), tagging secretor status and associated with Crohn's disease susceptibility, psoriasis risk, and gut microbiome composition; the G allele marks the secretor phenotype