rs17158558

A SNP in the RET gene on chromosome 10. Its most notable genotype is C;C: normal

Gene
RET
Location
Chr 1043,124,887 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
2%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodnormalTypical · 0.097% of people
  2. C;TNot ratednormalTypical · 0.03% of people
  3. T;TNot ratedassociated in just 1 case with Hirschsprung diseaseTypical · 0.0<1% 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 7 HapMap populations.

  • AverageC;C 97% C;T 3% T;T <1%
  • European ancestry (Utah)C;C 98% C;T 2% T;T 0%
  • Han Chinese (Beijing)C;C 98% C;T 2% T;T 0%
  • Japanese (Tokyo)C;C 98% C;T 2% T;T 0%
  • Yoruba (Nigeria)C;C 100% C;T 0% T;T 0%
  • Chinese (Denver)C;C 96% C;T 4% T;T 0%
  • Gujarati IndianC;C 97% C;T 2% T;T 1%
  • Maasai (Kenya)C;C 91% C;T 9% T;T <1%

Conditions, medicines and genes

Notes

From SNPedia

Notes

A complex pattern of mutations involving rs17158558(T) and other mutations simultaneously occurring may - or with greater odds, actually, may not - lead to Hirschsprung disease.

Source and license

Adapted from rs17158558 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.