Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes carry ~24% higher plasma vitamin C levels than AA homozygotes

Intronic variant near the BOLL gene associated with increased intracranial aneurysm susceptibility, replicated across European, Japanese, and Korean populations.

Intronic variant in the neuronal membrane glycoprotein M6a gene — a stress-downregulated scaffold protein critical for dendritic spine formation and synaptic plasticity; G allele associated with anxiety disorders in a major multi-ancestry GWAS

GWAS obesity locus near ETV5 — affects hypothalamic appetite regulation and food reward circuitry via glucocorticoid signaling

Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activity levels; the A allele tracks with lower PON1 antioxidant enzyme function on HDL, increasing vulnerability to LDL oxidation and cardiovascular risk

Missense variant in the extracellular domain of the IL-4 receptor alpha chain that alters Th2 immune signaling, associated with atopic asthma, rhinitis, and altered IgE responsiveness

Methionine synthase — uses B12 to convert homocysteine to methionine

Regulatory variant in the TSPAN2/NGF locus on chromosome 1p13; the C allele is one of the largest-effect migraine risk variants identified in the genome, with particular elevation of risk for migraine without aura through a peripheral trigeminal sensitization mechanism driven by nerve growth factor signalling

Missense variant that impairs PAX4's ability to repress insulin and glucagon promoters, reducing beta-cell mass and insulin secretion capacity; strongly associated with type 2 diabetes and younger age of onset in East and Southeast Asian populations

Intronic variant in MATE1, the renal and hepatic metformin efflux transporter; the A allele reduces tubular secretion, prolongs metformin retention, and enhances glucose-lowering response in type 2 diabetes