No-function DPYD star allele (I560S) causing severe DPD deficiency; one of four CPIC high-priority variants requiring 50% fluoropyrimidine dose reduction

Intronic PRDM16 variant reaching genome-wide significance in the first motion sickness GWAS, with the same risk allele independently associated with antimigraine medication use — pointing to a shared genetic basis for vestibular vulnerability and migraine susceptibility

Tag SNP for the insulin gene VNTR promoter — shorter Class I repeats raise T1D risk by reducing thymic insulin expression

Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, influencing methylation cycle balance and SAH clearance

Regulatory variant near FBXL3 that modulates circadian period length; the C allele is associated with an OR=1.19 for morningness chronotype in a 697,828-person GWAS

Functional promoter variant in TSLP that creates an AP-1 transcription factor binding site; the T risk allele increases long-form TSLP expression in airway epithelial cells, raising susceptibility to asthma, allergic rhinitis, and atopic conditions (OR 1.29–1.32)

CYP2E1*3 missense variant with no demonstrated change in enzyme activity for acetaminophen, ethanol, or industrial solvent substrates

Missense mutation replacing asparagine with tyrosine at position 141 of presenilin-2, causing early-onset autosomal dominant Alzheimer's disease in a Chinese Han family; absent from gnomAD and classified pathogenic by ACMG criteria

Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expression and GLP-1-stimulated insulin secretion; T allele carriers have mildly impaired incretin-driven beta-cell response and modestly elevated type 2 diabetes risk

Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-carbon metabolism and linked to folate receptor autoantibody levels and embryonic development risk