Promoter variant that reduces mTOR expression; the G allele lowers mTOR transcriptional activity and is associated with decreased cancer risk across multiple tumor types

GABA-A receptor alpha-2 subunit variant affecting alcohol response, anxiety, and addiction vulnerability

Promoter variant affecting circulating IGF-1 levels and athletic performance potential

Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splicing, associated with pulmonary tuberculosis susceptibility, cancer risk modification, and anti-TNF treatment response in inflammatory bowel disease

Missense variant in MTTP (microsomal triglyceride transfer protein) at residue 128; the C allele (Thr128) is associated with reduced hepatic steatosis and lower LDL-cholesterol through a complex, incompletely characterized effect on triglyceride transfer activity

Promoter variant that disrupts an SP1 transcription factor binding site, increasing MMP-9 expression in vascular tissue; the T allele is associated with elevated plaque instability, higher risk of myocardial infarction, and increased ischemic stroke risk, particularly in Asian populations

Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) causing Brown-Vialetto-Van Laere syndrome type 2, a rare autosomal recessive neurodegenerative disorder; high-dose riboflavin supplementation is the primary disease-modifying treatment

Mucin-1 gene variant affecting gastric mucus barrier function and H. pylori colonization resistance

Regulatory variant in the IL2RA locus altering LEF1 transcription factor binding and soluble IL-2 receptor levels — the C allele increases type 1 diabetes susceptibility while the minor A allele raises Graves' disease risk

Intronic IL6R variant associated with coronary artery disease risk, elevated inflammatory markers (CRP, LDL, ApoB), and altered response to IL-6 receptor-blocking biologics (tocilizumab, sarilumab); the T allele tags a haplotype with subtly enhanced classical IL-6 signaling