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

Intronic variant in FOXO1, a pro-apoptotic transcription factor whose suppression by the AKT/progestin pathway promotes uterine fibroid cell survival; the G allele is associated with elevated uterine leiomyoma risk in multiple GWAS, while the A allele associates with later age at natural menopause.

Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore formation, IL-1β release, and microglial neuroinflammation, associated with mood disorders and chronic pain severity

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

Reduces ABCG2 transporter function affecting rosuvastatin levels and uric acid excretion, increasing risk for statin side effects and gout

3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding sites, altering ZnT8 expression in pancreatic beta cells and influencing type 2 diabetes, type 1 diabetes, and gestational diabetes risk

Longevity-associated intronic enhancer variant

Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipoprotein C-III, raising triglycerides and VLDL through impaired post-meal suppression of apoCIII secretion

Second independent intronic BTBD9 variant associated with restless legs syndrome and periodic limb movements during sleep