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Learn · Variants · PITX2

rs2200733 PITX2

Increased risk for atrial fibrillation. PITX2 locus strongly associated with AF.

Curated · human-reviewed Health risk · Risk / effect allele: T · dbSNP

What is rs2200733?

rs2200733 is a single-nucleotide polymorphism (SNP) in the PITX2 gene (Paired-like homeodomain 2). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs2200733 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
TTelevatedIncreased risk for atrial fibrillation. PITX2 locus strongly associated with AF.85%
CT / TCslightly elevatedModerately increased atrial fibrillation risk.82%
CCtypical / lowerTypical risk for atrial fibrillation.85%

How common is the T allele of rs2200733?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European11.0%
East Asian38.0%
African4.0%
South Asian15.0%
Admixed American12.0%
Global16.0%

Is rs2200733 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.