Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, altering metabolism of acetaminophen, isoniazid, ethanol, and volatile anesthetics

Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype block; the minor C allele co-segregates with the risk haplotype associated with elevated PTP1B expression and impaired insulin signaling

Functionally validated FOXO3 intronic variant that creates an SRF binding site on the longevity allele, driving IGF-1-reversible enhancer activity and higher FOXO3 expression

Regulatory variant ~20 kb downstream of RGS16 that influences circadian chronotype; the C allele is associated with morningness preference (OR 1.21) in the largest replicated chronotype GWAS

Intronic variant in the primary lymphangiogenesis growth factor gene associated with elevated lymphedema risk and impaired lymphatic vascular support

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

Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating serum IgE and increasing risk for atopic dermatitis, allergic rhinitis, and eczema; the minor A allele (Q130) confers risk while the common G allele (R130) is protective for atopic disease

Folate processing enzyme — reduced stability increases choline need

Promoter variant affecting CYP3A4 expression, most common in African populations

Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; carriers of the T allele show reduced weight loss response to lifestyle intervention and blunted leptin reduction