rs4994

A SNP in the ADRB3 gene on chromosome 8. Its most notable genotype is G;G: 2x higher risk in certain women for cardiac events; associated with elite endurance performance in men

Gene
ADRB3
Location
Chr 837,966,280 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
10%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBad2x higher risk in certain women for cardiac events; associated with elite endurance performance in menWorth knowing · 2.01% of people
  2. A;GBad2x higher risk in certain women for cardiac events; associated with elite endurance performance in menTypical · 0.019% of people
  3. A;AGoodnormalTypical · 0.080% of people

SNPedia records rs4994 on the minus strand: (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.

  • AverageG;G 1% A;G 19% A;A 80%
  • European ancestry (Utah)G;G <1% A;G 16% A;A 83%
  • Han Chinese (Beijing)G;G 0% A;G 25% A;A 75%
  • Japanese (Tokyo)G;G 5% A;G 28% A;A 67%
  • Yoruba (Nigeria)G;G 1% A;G 10% A;A 88%
  • African ancestry (Southwest US)G;G 0% A;G 14% A;A 86%
  • Chinese (Denver)G;G 3% A;G 24% A;A 73%
  • Gujarati IndianG;G 1% A;G 25% A;A 74%
  • Luhya (Kenya)G;G 0% A;G 17% A;A 83%
  • Mexican ancestry (Los Angeles)G;G 2% A;G 21% A;A 78%
  • Maasai (Kenya)G;G 2% A;G 22% A;A 76%
  • TuscanG;G 0% A;G 8% A;A 92%

Conditions, medicines and genes

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Notes

rs4994, also known as Trp64Arg or as the Arg64 variant, is a SNP in the ADRB3 gene. The rs4994(C) allele encodes the variant arginine. In a study of 600+ women initially referred for coronary angiography and then followed for 6 years, during which time 115 experienced a heart problem, rs4994(C) individuals were calculated to be at higher risk (adjusted hazard ratio 2.10, CI: 1.05-4.24). This risk was due to subtle increases in risk for all of the individual endpoints, and was only seen in women without obstructive coronary artery disease. Response to Diet and Exercise

Source and license

Adapted from rs4994 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.