Promoter variant that increases leptin gene expression in adipose tissue, elevating circulating leptin and raising obesity, insulin resistance, and metabolic syndrome risk

Intronic variant in the adiponectin gene associated with ischemic stroke risk; the C allele — present in roughly 14% of people globally and 20% of Europeans — is linked to elevated cerebrovascular risk

3' UTR variant in SCARB1, lowering HDL cholesterol and impairing reverse cholesterol transport efficiency

Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolysosomal function and amyloid precursor protein processing, associated with approximately doubled late-onset Alzheimer's disease risk in the discovery cohort (OR ~2.10) and a pooled OR of 1.53 in meta-analysis; replication has been inconsistent across large European cohorts.

Intronic tag SNP in HLA-DQA1 in strong LD with HLA-DQA1*01:02; the G allele increases peanut allergy susceptibility by tagging the DQA1*01:02 haplotype, raises HLA-DQB1 expression in CD4+ T cells, and drives protective peanut-specific IgG4 responses when peanut is consumed early in life

A synonymous variant in CBS affecting homocysteine metabolism and associated with modest changes in transsulfuration pathway activity

Intronic CYP2C8 variant associated with bisphosphonate-related jaw complications and clopidogrel response

Synonymous exon 13 variant in the insulin receptor gene; the A allele has been associated with schizoaffective disorder and modestly with body height in psychiatric cohort studies

Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is associated with higher HDL cholesterol and lower cardiovascular event risk

Promoter variant at -487 in HTRA1 that elevates HTRA1 serine protease expression, disrupting TGF-β signaling and extracellular matrix remodeling in the retina and increasing risk of neovascular (wet) age-related macular degeneration