Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha transcriptional activity, impairing mitochondrial production, aerobic capacity, and metabolic adaptation

3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allele confers breast cancer risk (OR 1.38 in Chinese women); the same locus independently confers endometriosis susceptibility

Intronic MAPT variant that directly regulates tau exon 3 splicing via differential hnRNP F/Q binding; the G allele (H1 haplotype) reduces exon 3 inclusion, elevating 4-repeat tau isoforms and increasing risk for Parkinson's disease, PSP, and corticobasal degeneration

Intronic TSLP variant with T allele carriers showing milder, less persistent atopic dermatitis

Alters one-carbon metabolism and folate distribution; influences cancer risk and folate levels

Intronic variant in CYP2J2

Regulates insulin signaling efficiency and cellular glucose uptake

Intronic NR3C1 variant with TT genotype enriched in Polish centenarians; C allele associated with elevated cholesterol in the oldest-old

Intronic CD36 variant that reduces CD36 expression, with effects on circulating sCD36.

Final enzyme in melatonin synthesis; promoter variant reduces ASMT expression and lowers melatonin production, affecting sleep onset and circadian rhythm