Intronic TSPAN15 variant that modulates ADAM10-mediated shedding of GPVI, the major platelet collagen receptor; the C allele is associated with a 31% increased risk of venous thromboembolism and has pharmacogenomic relevance for emerging anti-GPVI therapies

Intronic variant in the rate-limiting bile acid synthesis gene; T allele carriers show reduced LDL-lowering response to statins and elevated cardiovascular risk.

Intronic variant in the anti-apoptotic gene BCL2 that affects BCL2 expression levels, intracellular calcium homeostasis, and rate of age-related gray matter loss in key brain regions

The most strongly replicated obesity-associated variant, affecting body weight through reduced adipocyte thermogenesis

Intronic variant in RAD51B on chromosome 14; the T allele is associated with increased rheumatoid arthritis risk (OR ~1.10 per allele) in trans-ethnic GWAS, likely through effects on lymphocyte genomic stability and immune cell development mediated by RAD51B's role in homologous recombination DNA repair

Histamine breakdown in gut - reduced activity means dietary histamine accumulates

Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg function; the protective G allele raises CD58 expression and reduces multiple sclerosis risk

Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — the major T allele is associated with salt-sensitive blood pressure, higher systolic BP on high-sodium diets, and attenuated plasma renin activity suppression on low-sodium diets; the minor C allele provides partial protection from salt-driven blood pressure excursions.

Intronic splice variant causing decreased CYP2D6 enzyme activity through aberrant splicing

Synonymous coding variant in the VIP gene (Asn133Asn); the T allele may alter mRNA folding and VIP expression efficiency, with potential downstream effects on circadian SCN synchrony, neuroimmune modulation, and gut motility