Promoter polymorphism that modulates PON1 gene expression level — the G allele (plus-strand alternate; corresponds to coding-strand C at the -909 position) reduces transcriptional output, lowering circulating PON1 enzyme and diminishing HDL-associated antioxidant protection against LDL oxidation.

Intronic variant in the CTSS locus associated with elevated atopic dermatitis risk through altered cathepsin S expression in antigen-presenting cells

Alters one-carbon metabolism and folate distribution; influences cancer risk, folate levels, and cardiovascular disease in combination with MTHFR variants

Regulatory variant near MUTED/BLOC1S5, a gene whose mouse homolog controls otolith synthesis in the vestibular labyrinth; the G allele increases susceptibility to motion sickness at genome-wide significance

Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 reference, minor at ~43% globally) has been associated with gestational diabetes risk in some small studies, though evidence is limited and inconsistent across populations

Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, altering metabolism of acetaminophen, isoniazid, ethanol, and volatile anesthetics

Intronic CD36 variant associated with altered body adiposity and platelet CD36 expression; the minor A allele tags a haplotype linked to higher waist circumference and BMI, reflecting CD36's role in long-chain fatty acid sensing and uptake

Gain-of-function missense variant in the neuropeptide S receptor that increases receptor signaling ~10-fold, promoting wakefulness and reducing sleep duration

PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the metabolic response to lifestyle intervention

Functionally validated FOXO3 intronic variant that creates an SRF binding site on the longevity allele, driving IGF-1-reversible enhancer activity and higher FOXO3 expression