Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele increases FOXA2-driven GCKR expression in the liver, boosting GKRP protein levels and glucokinase inhibition, resulting in elevated fasting glucose and the characteristic GCKR metabolic trade-off

Parkinson's disease GWAS risk variant affecting alpha-synuclein expression and neuronal differentiation

GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q12; G risk allele increases asthma susceptibility (OR 1.15, p=3×10⁻⁹) by tagging regulatory variation affecting IL-18 receptor and ST2 expression in type 2 immune responses

3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability via AU-rich elements and miRNA binding — predicts hepatitis C spontaneous clearance and treatment response

Main type 2 diabetes risk variant - strongly modulated by dietary fat

SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression and independently increases Parkinson's disease risk and earlier onset

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)

No-function CYP2C19 stop-gain variant — second most common loss-of-function allele, highest in East Asian ancestry

Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the minor G allele is associated with improved insulin secretion in lean individuals and a modest reduction in type 2 diabetes prevalence, while also modifying blood pressure response to high dietary salt intake.

Connexin 26 missense variant causing partial loss of cochlear gap junction function; the main mild-severity GJB2 deafness allele in European populations, with reduced penetrance and typically mild-to-moderate hearing loss