Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfuration; TT homozygotes have significantly elevated plasma homocysteine and reduced hydrogen sulfide bioavailability, with a ~3-fold higher risk of fatal myocardial infarction in women

Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWAS-identified common risk allele for type 2 diabetes with a modest additive effect on fasting glucose dysregulation

Missense variant in methionine synthase reductase that impairs B12 reactivation, elevating homocysteine and reducing methylation capacity

Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; the common C allele is independently associated with higher circulating YKL-40 levels, elevated asthma susceptibility, and increased CHI3L1 mRNA expression

Intronic CYP2B6 haplotype-tagging variant associated with altered plasma concentrations of efavirenz, S-methadone, and other CYP2B6-metabolized drugs

NR3C1 promoter variant reducing glucocorticoid receptor transcription; G allele (coding-strand C) associated with blunted GR expression and 4.7-fold increased risk of metabolic syndrome when homozygous

Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at position 239 (c.715C>T); homozygotes or compound heterozygotes develop complete 17α-hydroxylase/17,20-lyase deficiency with hypertension, hypokalemia, absent pubertal development, and adrenal crisis risk.

Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familial hypertrophic cardiomyopathy through increased calcium sensitivity and impaired muscle relaxation

Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; contributes to Crohn's disease risk primarily in compound heterozygous state with other NOD2 variants

5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven NF-κB signalling and increasing chronic inflammatory risk across cardiovascular and autoimmune conditions