rs12021720(C;T)

No summary available.

Magnitude
0.1Typical
Repute
Good
Frequency
18%Average of 11 populations
On SNPedia
rs12021720(C;T)
Gene
DBT

Frequency

Share of people with C;T in each HapMap population.

  • Yoruba (Nigeria)39%
  • Maasai (Kenya)38%
  • Luhya (Kenya)28%
  • African ancestry (Southwest US)26%
  • European ancestry (Utah)18%
  • Tuscan16%
  • Gujarati Indian9%
  • Han Chinese (Beijing)7%
  • Mexican ancestry (Los Angeles)7%
  • Chinese (Denver)6%
  • Japanese (Tokyo)2%

Other genotypes of rs12021720

  1. C;CGoodNo summary available.Typical · 0.080% of people
  2. T;TMost notableGoodrare genotype but harmlessTypical · 0.12% of people

All about rs12021720

Notes

From SNPedia

a relatively common variant, which is linked to Maple Syrup Urine Disease, but appears harmless. In 1998 this paper published about a patient with MSUD who had 2 mutations "The third patient was a compound heterozygote for a C to G transversion at nucleotide 309 in exon 4 and a G to A transition at nucleotide 1165 in exon 9, causing an Ile-to-Met substitution at amino acid 37 and a Gly-to-Ser substitution at amino acid 323." It is that second mutation (Gly-to-Ser substitution at amino acid 323 also known as rs12021720) which was found in your data. It isn't clear from the paper if that mutation was somehow the cause of MSUD, influences its progression, or is completely harmless. In more recent years we have some additional information about this mutation, we now know it's frequency in caucasian population. In your report it is mentioned that the (C;T) that you have is found in 15.3% of all caucasians. As a result it is exceedingly unlikely that this directly causes anything as significant as MSUD, however it may still have lesser consequences when combined with other variants. A SNPedia user has now self reported the (T;T) genotype making it very unlikely that this snp has significant consequences.

References

Source and license

Adapted from rs12021720(C;T) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.