Top obesity GWAS variant near NEGR1

Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~28-fold increased colorectal cancer risk, while heterozygous carriers have a modest CRC risk elevation (OR ~1.3)

Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was the top GWAS hit for lower circulating 25-hydroxyvitamin D in Ahn et al. 2010 (P = 3.4×10⁻⁹)

Intronic PPARA variant whose minor G allele has been associated with modest myocardial infarction risk and may influence the gene's anti-inflammatory transcriptional activity in vascular tissue

Intronic regulatory variant in the URAT1 renal urate transporter gene; the T allele upregulates SLC22A12 expression, increasing urate reabsorption and raising serum uric acid, with TT individuals at substantially higher gout risk

Lipid transport variant that impairs VLDL secretion, creating a paradoxical trade-off between liver and heart health

Common missense variant in the X-linked coagulation factor IX gene; the G allele is modestly protective against deep vein thrombosis, though its biological mechanism remains incompletely understood

Intronic variant in clusterin gene affecting Alzheimer's disease risk through regulation of amyloid-beta clearance

Promoter variant that increases GGH expression, accelerating hydrolysis of intracellular folate polyglutamates and reducing cellular folate retention

Common coding variant in the HNF1A transcription factor dimerization domain that modestly reduces beta-cell function and transactivation activity, raising LDL cholesterol and lowering CRP, while increasing type 2 diabetes risk in normal-weight individuals and accelerating diabetes onset in MODY3 carriers