Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24.3 associated with increased susceptibility to severe adolescent idiopathic scoliosis (AIS) across multiple ethnic populations

Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishes two independent psoriasis risk haplotypes; the minor A allele marks a secondary haplotype (OR=1.8 for psoriasis) while the common G allele co-segregates with the primary D10N risk haplotype (OR=2.7); together the four-SNP set provides full haplotype coverage at this IL-17 adaptor locus

Intronic MRAS variant that creates a MEF2 transcription factor binding site in vascular smooth muscle cells, increasing MRAS expression and promoting the pro-atherogenic synthetic phenotype switch linked to coronary artery disease

Co-chaperone of the glucocorticoid receptor that regulates cortisol feedback — the T allele impairs stress recovery and, combined with early adversity, strongly increases risk of PTSD and depression

Nonsense variant eliminating filaggrin protein — a minor European FLG null allele that acts as a compound heterozygote partner to the major European FLG mutations in atopic dermatitis and ichthyosis vulgaris

Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels while elevating triglycerides — with dietary fat type modifying the net cardiometabolic effect

Intronic SGK1 variant associated with depression susceptibility in coronary heart disease patients, linking glucocorticoid-regulated kinase signaling to the cardiovascular-psychiatric comorbidity axis

TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha transcription independently of the -308 variant; the T allele is associated with Crohn's disease susceptibility in Asian populations, psoriasis, and modified response to anti-TNF biologics

Second most common hereditary hemochromatosis variant, mildly increasing iron absorption and modestly raising iron stores

Upstream promoter variant in fibrinogen beta chain that elevates circulating fibrinogen levels and amplifies the acute-phase inflammatory response