Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks complement dysregulation and elevated AMD susceptibility, while the T allele is protective

Upstream regulatory signal near the core circadian clock gene PER2 that shifts chronotype toward eveningness and increases susceptibility to shift-work misalignment

Regulatory variant in the TSPAN2/NGF locus on chromosome 1p13

Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD50/IL13 atopy susceptibility locus; the G allele is associated with elevated blood eosinophil counts and atopic dermatitis susceptibility in Chinese Han populations (OR 1.15)

Common synonymous variant in the CBS gene

Intronic splice variant causing decreased CYP2D6 enzyme activity through aberrant splicing

Pathogenic glucokinase missense variant causing maturity-onset diabetes of the young type 2 (MODY2) — lifelong mild fasting hyperglycemia that rarely requires treatment and is frequently misdiagnosed as type 1 or type 2 diabetes

Intronic CDH13 variant altering T-cadherin expression; T allele carriers have lower circulating adiponectin but improved adiponectin signalling efficiency and better cardiometabolic outcomes

Adenosine A2A receptor variant that determines individual sensitivity to caffeine's effects on anxiety and sleep

Gain-of-function missense variant in the P2X7 ATP-gated receptor that increases receptor expression and ion channel activity, heightening neuroinflammation and linked to mood disorders, pain sensitization, and infection severity