rs4633

A SNP in the COMT gene on chromosome 22. Its most notable genotype is C;T: higher risk for endometrial cancer

Gene
COMT
Location
Chr 2219,962,712 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
39%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodnormalTypical · 0.044% of people
  2. C;TMost notableBadhigher risk for endometrial cancerWorth knowing · 2.042% of people
  3. T;TBadhigher risk for endometrial cancerWorth knowing · 2.014% 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 44% C;T 42% T;T 14%
  • European ancestry (Utah)C;C 29% C;T 46% T;T 25%
  • Han Chinese (Beijing)C;C 53% C;T 37% T;T 10%
  • Japanese (Tokyo)C;C 50% C;T 43% T;T 6%
  • Yoruba (Nigeria)C;C 48% C;T 40% T;T 12%
  • African ancestry (Southwest US)C;C 53% C;T 32% T;T 16%
  • Chinese (Denver)C;C 52% C;T 43% T;T 5%
  • Gujarati IndianC;C 37% C;T 42% T;T 22%
  • Luhya (Kenya)C;C 48% C;T 40% T;T 12%
  • Mexican ancestry (Los Angeles)C;C 40% C;T 48% T;T 12%
  • Maasai (Kenya)C;C 46% C;T 45% T;T 10%
  • TuscanC;C 29% C;T 50% T;T 21%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs4633 is a variant at codon 62 of the COMT gene, however, it does not change the amino acid sequence of the COMT protein. In a study of 150 (Caucasian) cases of endometrial cancer, a significant increase in rs4633(T;T) genotype was observed in patients compared to controls (OR = 2.39, CI: 1.31-4.37, p = 0.004). Furthemore, the frequency of the C-G haplotype of rs4633-rs4680 was significantly higher in controls (p < 0.0001) than in patients. This correlated with lower expression levels of the COMT protein in carriers of these alleles. pubmed 1180576 Schizophrenia Susceptibility Genetic basis for individual variations in pain perception and the development of a chronic pain condition

Source and license

Adapted from rs4633 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.