Intronic variant in the neuroserpin gene; the A allele has been associated with early-onset ischemic stroke in Caucasian women in an ancestry-specific dominant model

Chromosome 9 regulatory co-variant near a lncRNA locus that co-segregates with VEGFA-pathway GWAS signals; T allele may associate with altered circulating VEGF levels influencing angiogenic capacity and vascular remodeling

Obesity GWAS missense variant in SH2B1 that impairs leptin signaling and increases visceral fat and type 2 diabetes risk

Intronic IL23R variant in which the T allele increases susceptibility to Crohn's disease, ulcerative colitis, and ankylosing spondylitis, while the G allele is protective — independent of the rs2201841 risk signal at the same locus

Missense variant in the COPII vesicle coat protein SEC23A, associated with circulating 25-hydroxyvitamin D levels through proposed effects on secretory pathway efficiency

Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevated systolic and diastolic blood pressure; the G allele has been linked in large GWAS to modestly higher blood pressure and, through shared genetic architecture, to increased susceptibility to preeclampsia and other hypertensive disorders of pregnancy

Gain-of-function missense variant in the IL-4 receptor alpha chain that amplifies Th2 immune signaling, increasing susceptibility to asthma, atopic dermatitis, and allergic disease

B12 recycling enzyme — regenerates active B12 for the methylation cycle

Regulatory variant at chromosome 6q16.1 near POU3F2 (BRN2), a master transcription factor for cortical neuron development; the A allele is associated with higher general cognitive ability and educational attainment in GWAS studies totalling over 1 million individuals

Intronic INSR variant associated with PCOS susceptibility and metabolic syndrome risk through altered insulin receptor signaling