A 3' UTR variant in RAD51B that alters miRNA-616 binding efficiency and is associated with increased risk of rheumatoid arthritis and impaired DNA double-strand break repair in immune cells

Warfarin sensitivity - determines initial dosing

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

Regulatory variant upstream of IL33 encoding interleukin-33; the A allele increases IL33 expression in bronchial epithelium and raises risk for asthma, hay fever, and eczema across shared type-2 immune pathways

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 that disrupts amyloid-beta clearance by microglia and impairs neuronal phosphatidylcholine metabolism, increasing Alzheimer's disease risk approximately twofold

P2RX7 variant with a unique dual mechanism — gain-of-function in channel opening and loss-of-function in pore formation — associated with chronic pain susceptibility, neuroinflammation, and modulation of microglial signaling

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

The most common cause of autosomal recessive nonsyndromic hearing loss in Europeans; homozygous deletion eliminates connexin 26 function and causes severe-to-profound congenital deafness

The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% carrier frequency); frameshift deletion eliminates connexin 26 function and causes congenital sensorineural hearing loss in homozygotes or compound heterozygotes