Intergenic variant in the proximal 3' regulatory block near MC4R associated with increased BMI, body fat percentage, elevated leptin, and severe obesity risk

Tag SNP in the filaggrin (FLG) locus associated with elevated atopic dermatitis risk — strongly enriched in East Asian populations where the G allele reaches 57% frequency

Missense variant in the PARP1 catalytic domain that reduces enzymatic activity by ~40%, impairing DNA single-strand break repair and altering NAD+ consumption dynamics

T-cell receptor alpha locus variant associated with narcolepsy susceptibility, particularly in HLA-DQB1*06:02 positive individuals

Intronic variant in the BDNF-receptor trafficking gene SORCS3, associated with mood instability, neuroticism, reduced wellbeing, and cross-disorder psychiatric risk across multiple large GWAS

Intronic PPARG variant that accounts for ~7% of individual variation in body weight reduction during calorie restriction

Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitive reduction in fatty acid oxidation capacity; homozygous individuals retain substantial residual activity and are likely asymptomatic, but compound heterozygotes pairing this allele with a more severe ACADM variant are at risk for MCAD deficiency

Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter, causing autosomal recessive acrodermatitis enteropathica — a treatable zinc malabsorption disorder

Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) that cannot be secreted as VLDL or LDL, causing familial hypobetalipoproteinemia with very low LDL cholesterol and hepatic steatosis

Splice-region synonymous variant in the innate antiviral gene IFITM3; the G allele (C on coding strand) reduces antiviral protein activity and is strongly associated with severe influenza, COVID-19, and other enveloped virus infections.