Sp1 transcription factor binding site polymorphism affecting collagen production, bone mineral density, and osteoporotic fracture risk

Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from photoprotective eumelanin to pro-oxidant pheomelanin; doubles melanoma risk and doubles non-melanoma skin cancer risk per allele

Intronic TLR4 variant in the innate immune receptor gene; the A allele associates with modestly reduced vascular inflammation and lower risk of nonfatal myocardial infarction, while the common GG genotype is linked to higher atherosclerotic cerebral infarction risk

Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression and increases susceptibility to adolescent idiopathic scoliosis; TBX1 is the principal gene responsible for DiGeorge syndrome and governs pharyngeal arch and spinal musculature development

Rare pathogenic missense variant in the myosin essential light chain causing hypertrophic cardiomyopathy with high penetrance in affected families

Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1; the A allele increases ESR1 transcription and is associated with elevated endometriosis risk, endometrial cancer susceptibility, and breast cancer risk across multiple populations

Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; the G allele is associated with impaired tumor-suppressive Fas-mediated apoptosis and elevated squamous cell carcinoma risk

Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility and coronary heart disease risk at one of the most replicated lipid GWAS loci

Intronic IL2RA variant independently associated with psoriasis susceptibility

Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH level modulation; the C allele tags a GWAS-identified risk haplotype that elevates basal FSH and increases PCOS risk, while the T allele is protective and associated with normal FSH levels