Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circulating vitamin D-binding protein levels through altered glycosylation of DBP

Nonsense mutation in APOB creating a premature stop codon at position 2085, producing a truncated apolipoprotein B fragment (ApoB-46) that reduces LDL and VLDL secretion; pathogenic for familial hypobetalipoproteinemia type 1

Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription factor binding site that limits monocyte inflammation via a TGFβ1 pathway, dampening pro-inflammatory cytokines and conferring mortality resilience

Intergenic variant on chromosome 11q13.4 associated with circulating vitamin B12 levels in genome-wide association studies; the A allele is linked to higher serum B12 concentrations

Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with altered SULT1E1-related outcomes; the C allele, enriched in East Asian populations, has been linked to worse colorectal cancer survival and may influence local estrogen bioavailability through effects on SULT1E1 expression regulation

Collagen fibril assembly variant linked to soft tissue injury risk and tendon flexibility

PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with elevated testosterone levels and modestly increased PCOS risk in women of European ancestry

Strongest GWAS signal for coronary artery disease; risk C allele accelerates vascular senescence by dysregulating ANRIL-mediated repression of the p16/p15 cell-cycle-inhibitor cluster at 9p21.3

African lactase persistence variant — MCM6 enhancer SNP that controls LCT expression in East and southern African populations

Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 associated with blood zinc levels in genome-wide association studies; CA1 is a zinc-binding metalloenzyme expressed at very high levels in erythrocytes