Upstream regulatory variant near MC4R that may create a transcription factor binding site, with emerging evidence linking the A allele to greater weight gain during clozapine treatment

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

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

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

Low-frequency missense variant in SYPL2 associated with morbid obesity susceptibility and sex-specific fat distribution patterns

Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~48%, independently limiting beta-carotene to vitamin A conversion; the top GWAS hit for circulating beta-carotene levels

3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C missense variant (rs1049550); the C allele tags the sarcoidosis-risk haplotype and is associated with increased susceptibility to pulmonary granulomatous inflammation