Common intron 2 variant in the telomerase gene that influences telomere length, with the C allele associated with longer telomeres and increased cancer risk, while the A allele links to shorter telomeres and higher risk of degenerative diseases

Synonymous variant in CA14 near APH1A; T allele is associated with morning chronotype (OR=1.12)

Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recognition and dampening inflammatory responses

Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allele reduces SMAD3 enhancer activity in arterial smooth muscle cells, lowering TGF-beta-driven vascular remodeling and coronary artery disease risk

Intronic eQTL in CHRNA5 that modulates alpha-5 nicotinic receptor mRNA expression levels, forming an independent risk signal for nicotine dependence distinct from the Asp398Asn coding variant (rs16969968)

Determines secretor status — whether ABO blood group antigens are secreted into bodily fluids, affecting gut microbiome, vitamin B12 levels, and infection susceptibility

Low-frequency missense variant in SYPL2 associated with morbid obesity susceptibility

Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expression, increasing susceptibility to ulcerative colitis and modifying colorectal cancer and cardiovascular risk

Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS with elevated risk of endometriosis, particularly moderate-to-severe (stage III/IV) disease, and with uterine fibroid susceptibility.

Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3