GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA pathogenic allele; heterozygotes carry substantially elevated risk for Parkinson's disease, Lewy body dementia, and REM sleep behavior disorder; homozygotes develop Gaucher disease type I

Common noncoding variant upstream of LRRK2 that increases gene expression in microglia and Parkinson's disease risk

Intronic SCARB2 variant associated with REM sleep behavior disorder risk via the lysosomal GBA-trafficking pathway — the molecular bridge between glucocerebrosidase delivery and alpha-synuclein clearance

Intronic ABCA7 variant tagging an expanded VNTR, increasing Alzheimer's disease risk approximately twofold

Promoter variant affecting GTP cyclohydrolase 1 expression and pain sensitivity, with opposite effects in European vs African populations

Capsaicin receptor variant affecting heat and pain sensitivity

Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*01:02/DQB1*06:02), the strongest genetic risk factor for multiple sclerosis, and is also associated with SLE and ulcerative colitis

Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arterial compliance; the A allele is one of the strongest migraine GWAS hits (OR ~1.08) while the G allele shows the opposite pattern — protective against migraine but a major coronary artery disease risk factor, demonstrating striking pleiotropy across five vascular diseases