rs2200733

A SNP in the LOC729065 gene on chromosome 4. Its most notable genotype is C;T: 1.4x increased risk of Atrial Fibrillation and ischemic stroke.

Gene
LOC729065
Location
Chr 4110,789,013 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
27%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGood0.86x decreased risk of Atrial FibrillationMinor · 1.955% of people
  2. C;TMost notableBad1.4x increased risk of Atrial Fibrillation and ischemic stroke.Important · 3.036% of people
  3. T;TBad1.5x increased risk of Atrial Fibrillation and ischemic stroke.Important · 3.09% of people

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageC;C 55% C;T 36% T;T 9%
  • European ancestry (Utah)C;C 79% C;T 20% T;T 2%
  • Han Chinese (Beijing)C;C 27% C;T 53% T;T 20%
  • Japanese (Tokyo)C;C 30% C;T 46% T;T 24%
  • Yoruba (Nigeria)C;C 56% C;T 37% T;T 7%
  • African ancestry (Southwest US)C;C 51% C;T 47% T;T 2%
  • Chinese (Denver)C;C 24% C;T 46% T;T 30%
  • Gujarati IndianC;C 75% C;T 22% T;T 3%
  • Luhya (Kenya)C;C 66% C;T 31% T;T 3%
  • Mexican ancestry (Los Angeles)C;C 55% C;T 41% T;T 3%
  • Maasai (Kenya)C;C 76% C;T 20% T;T 5%
  • TuscanC;C 68% C;T 30% T;T 2%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 500 words

Two SNPs from chromosome 4q25, rs2200733 and rs10033464, were found to be associated with atrial fibrillation in a study of both European and Asian populations. The odds ratio associated with one or more copies of either risk allele was ~1.4x. The results derived from a study of 78 Italians with atrial fibrillation (AF) and atrial flutter (AFL) agree with previously reported findings from the Icelandic study (), which also found that the rs2200733(T) was associated with AF/AFL disease. In 1,661 Icelandic ischemic stroke samples and two large European replication sets combined, rs2200733 was associated with cardioembolic stroke (CES) (odds ratio 1.54, p = 8.05 x 10e-9). rs2200733 even showed association to ischemic stroke that was not classified as cardioembolic stroke. rs2200733 and rs10033464 are strongly associated with AF in four cohorts of European descent. A study of 1,166 Caucasian patients following coronary artery bypass grafting concluded that rs2200733(T) carriers had increased long-term mortality (hazard ratio 1.57, CI: 1.10 - 2.24) and higher risk for postoperative atrial fibrillation (odds ratio 1.41, CI: 1.04 - 1.91). rs2200733 was found to be associated with atrial fibrillation based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs. genesherpa does a blog post about this snp rs2200733(T;T) individuals have a mean PR interval (a risk factor for atrial fibrillation) of 189.5 ± 35.8 ms in comparison to mean PR intervals of 172.0 ± 29.0 and 171.0 ± 27.1 ms for (C;T) and (C;C) genotypes, respectively (p = 0.013 and p = 0.0056), according to this study.

C;C

This is the normal version which makes the heart form properly and makes people less likely to get Atrial Fibrillation (quivering of the top chambers of the heart caused by chaotic electrical signals) and less likely to have an Ischemic Stroke (blocked blood flow to the brain). But also check the other SNP nearby (rs10033464) which slightly affects Atrial Fibrillation too. 23andMe gave this a 4 star confidence rating as it has been heavily studied. It has been confirmed in Europeans and Asians.

C;T

One defective copy. This affects the formation of the heart and gives a higher risk of Atrial Fibrillation (quivering of the top part of the heart), and Cardioembolic and Ischemic strokes (blocked blood flow to the brain). Based on several quality studies, and confirmed for Europeans and Asians. It's recommended to eat a heart-healthy diet, and only drink alcohol in moderation, to lower the risk.

T;T

Two defective copies. This affects the formation of the heart and gives a higher risk of Atrial Fibrillation (quivering of the top part of the heart), and Cardioembolic and Ischemic strokes (blocked blood flow to the brain). Based on several quality studies, and confirmed for Europeans and Asians. It's recommended to eat a heart-healthy diet, and only drink alcohol in moderation, to lower the risk.

Source and license

Adapted from rs2200733 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.