Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regulation, slows alpha-synuclein clearance, and increases risk for Parkinson's disease and REM sleep behavior disorder

Missense variant in the GLP-1 receptor that alters drug response to GLP-1 agonists (Ozempic, Wegovy, Saxenda) and DPP-4 inhibitors, with genome-wide significant protection against type 2 diabetes in East Asians

Intronic MTRR variant with sex-specific association with DNA methylation patterning in one-carbon metabolism

Regulatory variant ~20 kb downstream of RGS16 that influences circadian chronotype via cAMP signaling in the suprachiasmatic nucleus; the C allele is associated with morningness preference (OR 1.21) in the largest replicated chronotype GWAS

Intronic LIPG variant that modulates HDL cholesterol levels, with strongest effects on HDL particle size and concentration in physically inactive individuals

PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevating LDL-cholesterol and increasing coronary artery disease risk independently of traditional cardiovascular risk factors

Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modulation of hypertension risk; the T allele is linked to lower YKL-40 output and a reduced risk of hypertension, extending the known allergy-relevant inflammatory axis of the CHI3L1 locus into cardiovascular biology

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

Intronic variant in the folate transporter gene associated with pemetrexed treatment outcomes and folate pathway efficiency in antifolate chemotherapy

Intronic variant in KDM4A histone demethylase associated with problematic opioid prescription use in a 132,113-participant GWAS