rs5352

A SNP in the EDNRB gene on chromosome 13. Its most notable genotype is T;T: Hirschsprung disease?

Gene
EDNRB
Location
Chr 1377,901,095 (GRCh38)
Highest magnitude
3.5Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadHirschsprung disease?Important · 3.50% of people
  2. C;TBadprobably Hirschsprung disease carrierWorth knowing · 2.23% of people
  3. C;CGoodcommonTypical · 0.098% of people

SNPedia records rs5352 on the minus strand: (A;A), (A;G), (G;G). 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% C;T 3% C;C 98%
  • European ancestry (Utah)T;T 0% C;T 6% C;C 94%
  • Han Chinese (Beijing)T;T 0% C;T 0% C;C 100%
  • Japanese (Tokyo)T;T 0% C;T 0% C;C 100%
  • Yoruba (Nigeria)T;T 0% C;T 0% C;C 100%
  • African ancestry (Southwest US)T;T 0% C;T 4% C;C 96%
  • Chinese (Denver)T;T 0% C;T 1% C;C 99%
  • Gujarati IndianT;T 0% C;T 1% C;C 99%
  • Luhya (Kenya)T;T 0% C;T 2% C;C 98%
  • Mexican ancestry (Los Angeles)T;T 0% C;T 13% C;C 87%
  • Maasai (Kenya)T;T 0% C;T <1% C;C 99%
  • TuscanT;T 0% C;T 1% C;C 99%

Conditions, medicines and genes

Other EDNRB SNPs

All EDNRB SNPs

Notes

From SNPedia

Notes

C;T

Hirschsprung disease

Source and license

Adapted from rs5352 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.