TGF-beta signaling regulator variant identified as the top shared locus between migraine and type 2 diabetes

Circadian clock gene variant affecting fasting glucose, hepatic lipid metabolism, and seasonal metabolic responses

Most common European allele for glutaric acidemia type 1; complete loss of GCDH enzyme activity when inherited with a second pathogenic allele, causing striatal necrosis during febrile crises if untreated

Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH receptor expression; homozygotes develop severe congenital hypothyroidism; heterozygous carriers may have subclinical TSH elevation warranting monitoring

Ultra-rare APOE3 missense variant that dramatically reduces HSPG binding and tau propagation, conferring near-complete resistance to Alzheimer's disease in the homozygous state and a modest protective delay in heterozygotes

Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratification beyond R620W and associates independently with Hashimoto's thyroiditis in Asian populations

9p21 locus variant in the ANRIL long non-coding RNA gene associated with intracranial aneurysm and coronary artery disease, with the T allele increasing arterial disease risk across multiple vascular beds

Intronic variant in GREB1, an estrogen-responsive gene; the G allele is associated with increased risk of endometriosis, particularly moderate-to-severe disease, across European and East Asian populations

Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation and MASLD risk; the T allele interacts with sedentary behavior to substantially amplify adult fatty liver risk, while being protective against fibrosis in children

Co-chaperone of the glucocorticoid receptor that regulates cortisol feedback — the T allele impairs stress recovery and, combined with early adversity, strongly increases risk of PTSD and depression