Intronic variant in the AMPA glutamate receptor gene GRIA4 associated with restless legs syndrome risk via hyperglutamatergic thalamic excitability

Second functional variant in glutathione S-transferase Pi 1, reducing enzyme activity to ~80% of normal and defining key GSTP1 haplotypes that affect detoxification capacity and cancer susceptibility

3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRNA expression via allele-specific mechanisms, providing additional signal on zinc-mediated insulin processing and type 2 diabetes susceptibility at this locus

Missense variant in IFNL4 exon 2 that reduces IFN-λ4 protein activity; the Ser70 form (A allele) produces weaker antiviral signalling and is associated with better hepatitis C clearance among ΔG carriers

Common regulatory variant in the FLG locus associated with impaired skin barrier function and substantially elevated risk for atopic dermatitis (eczema)

Zinc and manganese transporter variant that reduces metal ion absorption, affecting gut barrier function and microbiome composition

Original 2008 Willcox longevity discovery variant; C allele tags the protective haplotype and shifts FOXO3 expression toward full-length isoforms away from truncated non-functional forms

Intronic variant in the brain-specific circadian transcription factor NPAS2; the T allele has been associated with prostate cancer susceptibility in a single candidate-gene study but lacks GWAS-level replication

Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting peroxisomal fatty acid beta-oxidation; homozygous or compound heterozygous carriers develop either severe neonatal DBP deficiency or the milder Perrault syndrome (sensorineural hearing loss and ovarian insufficiency); heterozygous carriers are unaffected

Promoter variant in neuropeptide Y that modulates NPY expression under stress, affecting stress resilience, anxiety vulnerability, appetite regulation, and migraine susceptibility