Regulatory variant in the lymphotoxin beta receptor gene associated with increased susceptibility to recurrent throat infections and tonsillectomy

Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, associated with elevated type 1 diabetes risk

Intronic regulatory variant in TBX21 that influences T-bet expression and Th1/Th2 immune balance; the minor T allele is associated with elevated regulatory T-cell markers and reduced early-childhood atopic dermatitis risk, while the common C allele is linked to lower CD4+CD25+ Treg frequency and higher susceptibility to atopic disease

Intronic variant near the ATM gene affecting metformin's activation of AMPK; the C allele confers improved glycemic response to metformin and links the DNA damage response pathway to longevity-relevant AMPK-mTOR signaling

Missense variant in RGS16 that substitutes histidine for arginine at position 137 of the G-protein signaling regulator expressed in the suprachiasmatic nucleus

Rare AMPK beta-1 subunit variant linking central energy sensing to shared migraine and type 2 diabetes susceptibility

Intronic variant in MCF2L that acts as a synovial eQTL — A allele carriers have higher MCF2L expression in joint tissue and elevated osteoarthritis risk across large joints

Pathogenic missense variant in muscle glycogen phosphorylase causing post-translational protein loss; homozygous or compound heterozygous carriers develop McArdle disease (glycogen storage disease type V), the second most common PYGM pathogenic allele in Spanish populations

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Nonsense mutation in APOB creating a premature stop codon at position 1333, truncating apolipoprotein B-100 to ~30% of its normal length and causing familial hypobetalipoproteinemia with very low LDL cholesterol; pathogenic for FHBL