rs17602729(A;A)

AMPD1 deficiency homozygous

Magnitude
3.0Important
Repute
Bad
Frequency
<1%Average of 9 populations
On SNPedia
rs17602729(T;T)Minus strand
Gene
AMPD1

Frequency

Share of people with A;A in each HapMap population.

  • European ancestry (Utah)3%
  • Tuscan2%
  • Mexican ancestry (Los Angeles)2%
  • Han Chinese (Beijing)0%
  • Japanese (Tokyo)0%
  • Yoruba (Nigeria)0%
  • Gujarati Indian0%
  • Luhya (Kenya)0%
  • Maasai (Kenya)0%

Other genotypes of rs17602729

  1. T;TBadAMPD1 deficiency homozygous (orientation reversed)Important · 3.00% of people
  2. G;TNot ratedunexpected genotypeWorth knowing · 2.10% of people
  3. C;TBadAMPD1 deficiency heterozygous (orientation reversed)Worth knowing · 2.80% of people
  4. A;TMost notableNot ratedReally unexpected!Important · 3.50% of people
  5. G;GGoodnormalTypical · 0.094% of people
  6. C;GNot ratedunexpected genotypeWorth knowing · 2.10% of people
  7. A;GBadAMPD1 deficiency heterozygousWorth knowing · 2.85% of people
  8. C;CGoodnormal (orientation reversed)Typical · 0.00% of people
  9. A;CNot ratedunexpected genotypeImportant · 3.40% of people

All about rs17602729

Notes

From SNPedia

This is found in ~2% of all caucasians. The majority of people with the AMPD gene are asymptomatic, but in response to vigorous exercise, others have symptoms including early fatigue, muscle pain and muscle cramping. *http://en.wikipedia.org/wiki/Adenosine_Monophosphate_Deaminase_Deficiency_type_1 *http://rarediseases.info.nih.gov/GARD/Condition/547/QnA/23731/Adenosine_monophosphate_deaminase_1_deficiency.aspx *http://www.ncbi.nlm.nih.gov/clinvar/RCV000019933.1/ *http://evidence.personalgenomes.org/AMPD1-Q12X

Source and license

Adapted from rs17602729(T;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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.