Decreased-function variant affecting metabolism of efavirenz, methadone, bupropion, and cyclophosphamide

Dopamine/catecholamine breakdown — affects stress response and methyl donor tolerance

Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS1); the T risk allele impairs glucose-stimulated pancreatic beta-cell proliferation, conferring a modest but independently replicated ~8% increased type 2 diabetes risk per allele

Regulatory variant near the NAF1 telomerase assembly gene associated with shorter telomeres and higher cardiovascular risk

Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthesis by 40%, skews immune cells toward a pro-inflammatory Th2 phenotype, and is the strongest non-HLA coding risk factor for ulcerative colitis

Intronic enhancer variant in ELOVL2 that controls transcription factor binding to the ELOVL2 promoter, with the A allele reducing elongase-2 expression and impairing EPA-to-DHA conversion; the lead InCHIANTI GWAS signal for plasma EPA levels and a modifier of sex-specific DHA response to omega-3 supplementation

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

SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA risk haplotype (OR 2.51 for PD) and shows an independent TT homozygote association with Parkinson's disease risk and cognitive impairment

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

Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxification in mitochondria