Intronic IL23R variant whose minor A allele tags the protective haplotype for ankylosing spondylitis and Crohn's disease while representing an independent susceptibility signal for rheumatoid arthritis

Intronic IL6 variant tagging a low-producing haplotype — the T allele is protective against diabetic nephropathy and severe acute inflammation

Nicotinic receptor variant strongly associated with heavy smoking, nicotine dependence, and increased lung cancer risk

3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, reducing FADS1 desaturase expression by up to 30–60%; the T allele impairs conversion of linoleic acid to arachidonic acid and ALA to EPA, and is independently associated with elevated serum triglycerides.

Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smooth muscle cell behavior, with well-replicated association with coronary artery disease risk

Promoter region variant affecting sex hormone-binding globulin levels, with the A allele increasing SHBG by 15-25% and influencing free testosterone and estradiol bioavailability

Promoter variant reducing UCP1 expression in brown adipose tissue, impairing cold-induced and postprandial thermogenesis and increasing visceral fat accumulation with age

Upstream promoter-region ACE variant on a separate LD block from the I/D polymorphism — the C allele is associated with young-onset hypertension

Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 causing glycogen storage disease type Ia; the most common G6PC1 disease allele in European and Ashkenazi Jewish populations, with complete abolition of enzyme activity when homozygous; heterozygous carriers are clinically unaffected but carry reproductive risk

Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prolapse type 2 through loss of protein stability and disrupted planar cell polarity signaling during valve development