NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide synthesis

Intronic variant in the alpha-T-catenin gene associated with modestly increased late-onset Alzheimer's disease risk, with the strongest female-specific signal in intron 9 of CTNNA3

Rare CYP2D6 stop-gain variant (Glu418Ter) that eliminates enzyme activity, causing poor metabolism of opioids, antidepressants, antipsychotics, and tamoxifen

Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence for effects on beta cell transcriptional regulation through the Wnt/beta-catenin axis

Missense variant in core circadian clock gene PER2 that lengthens intrinsic circadian period and shifts chronotype toward eveningness

Intronic variant in ELOVL2 associated with altered plasma phospholipid PUFA levels; the C allele tags a haplotype with reduced DHA production and higher DPA accumulation, indicating impaired elongation of DPA to the DHA precursor

Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and improves LDL and HDL cholesterol despite no amino acid change

Missense variant that reduces CETP enzyme activity, raising HDL-C and enlarging lipoprotein particles; the Val/Val (GG) genotype is enriched in Ashkenazi Jewish centenarians and associated with slower cognitive decline

Intronic FMO3 variant associated with reduced hepatic oxidation of garlic-derived sulfur compounds (S-allylcysteine) and trimethylamine; C allele carriers accumulate higher circulating levels of unprocessed sulfur metabolites

Intronic variant in the mitochondrial biogenesis regulator NRF2, associated with endurance athletic performance and intermittent exercise capacity