rs2200733

rs2200733 is a non-coding variant in an intergenic region on chromosome 4q25 near PITX2, which encodes a transcription factor required for normal left-right patterning of the heart and pulmonary vein development. It does not alter a protein sequence but was among the first and most robustly replicated genome-wide signals for atrial fibrillation, with the risk allele associated with increased AF risk across European, East Asian, and African-ancestry cohorts. It is used as a component of polygenic risk scoring for atrial fibrillation.