rs3788853

A SNP in the XPNPEP2 gene on chromosome X. Its most notable genotype is T;T.

Gene
XPNPEP2
Location
Chr X129,736,814 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
24%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot ratedNo summary available.Typical · 0.00% of people
  2. G;TNot ratedNo summary available.Typical · 0.00% of people
  3. G;GNot ratedNo summary available.Typical · 0.00% of people
  4. C;CNot ratedrisk of angioedemaTypical · 0.065% of people
  5. A;CNot rated?Typical · 0.019% of people
  6. A;ANot ratednormalTypical · 0.015% of people

SNPedia records rs3788853 on the minus strand: (A;A), (C;A), (C;C), (G;G), (G;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.

  • AverageT;T 0% G;T 0% G;G 0% C;C 65% A;C 19% A;A 15%
  • European ancestry (Utah)T;T 0% G;T 0% G;G 0% C;C 64% A;C 19% A;A 17%
  • Han Chinese (Beijing)T;T 0% G;T 0% G;G 0% C;C 62% A;C 21% A;A 17%
  • Japanese (Tokyo)T;T 0% G;T 0% G;G 0% C;C 56% A;C 25% A;A 20%
  • Yoruba (Nigeria)T;T 0% G;T 0% G;G 0% C;C 69% A;C 15% A;A 16%
  • African ancestry (Southwest US)T;T 0% G;T 0% G;G 0% C;C 67% A;C 19% A;A 14%
  • Chinese (Denver)T;T 0% G;T 0% G;G 0% C;C 62% A;C 22% A;A 17%
  • Gujarati IndianT;T 0% G;T 0% G;G 0% C;C 71% A;C 19% A;A 10%
  • Luhya (Kenya)T;T 0% G;T 0% G;G 0% C;C 62% A;C 17% A;A 21%
  • Mexican ancestry (Los Angeles)T;T 0% G;T 0% G;G 0% C;C 57% A;C 24% A;A 19%
  • Maasai (Kenya)T;T 0% G;T 0% G;G 0% C;C 67% A;C 21% A;A 13%
  • TuscanT;T 0% G;T 0% G;G 0% C;C 83% A;C 12% A;A 5%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 140 words

A form of this snp, located upstream of the XPNPEP2 gene on the X chromosome, may cause susceptibility to skin swelling when taking medicines called ACE Inhibitors. Also known as -2399C/A in the literature; however in SNPedia, where the orientation of the corresponding dbSNP entry is recognized as primary, this is G/T. After noticing the association of this SNP with the phenotype, the authors genotyped 20 independent AE-ACEi cases and 60 unrelated, matching controls for this SNP. The T allele was present in 8 of the 20 AE patients; and by allele counting, the T allele was found at a frequency of 11.1% in the control population and 27.3% in their AE-ACEi cases. *See also OMIM 300145

A;A

This genotype is susceptible to skin swelling when taking medicines called ACE Inhibitors . for more information visit rs3788853

Source and license

Adapted from rs3788853 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.