Promoter variant in Toll-like receptor 4 that drives higher TLR4 expression and amplified innate immune signaling, increasing risk for atherosclerosis and inflammatory tissue damage

Near-TERC regulatory variant where the minor T allele associates with shorter telomeres and accelerated cellular aging, while the major C allele produces longer telomeres but paradoxically increases risk for certain cancers

GIANT consortium GWAS obesity locus near GNPDA2

Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, dizygotic twinning, PCOS susceptibility, age at menopause, and male reproductive parameters

Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed a markedly elevated risk of progression from impaired glucose tolerance to type 2 diabetes in a single Finnish cohort study, though evidence remains emerging and unreplicated.

Intronic variant in the circadian clock regulator RORA; the T allele is protective against asthma in European cohorts with genome-wide significant replication

An FTO intron-8 variant in the same haplotype block as rs1420318, with emerging associations with bone mineral density and alcohol dependence susceptibility; distinct from the primary intron-1 obesity cluster

Common leptin receptor variant in the leptin-binding domain affecting satiety signaling and metabolic regulation

Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion despite no amino acid change, elevating chronic periodontitis risk and modulating inflammatory disease susceptibility

Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is associated with increased endometriosis risk; the G allele confers protection. Identified independently of the nearby rs13394619 GREB1 variant (r²=0.65 in Europeans — moderate LD, not redundant), with OR=1.13 and P=3×10⁻¹⁷ for all endometriosis and OR=1.16 (P=6×10⁻⁹) for stage 3/4 disease in the 2023 Rahmioglu Nature Genetics GWAS.