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.
- C;CMost notableGoodnormal
- C;TNot ratednormal
- T;TNot ratedassociated in just 1 case with Hirschsprung disease
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%
Related
Conditions, medicines and genes
Other RET SNPs
- rs74799832C;TMultiple Endocrine Neoplasia IIAVery important
- rs77316810A;TMultiple Endocrine Neoplasia IIAVery important
- rs77503355A;GMultiple Endocrine Neoplasia IIAVery important
- rs77558292C;TMultiple Endocrine Neoplasia IIAVery important
- rs77709286C;GMultiple Endocrine Neoplasia IIAVery important
- rs78935588C;GMultiple Endocrine Neoplasia IIAVery important
- rs79658334C;GMultiple Endocrine Neoplasia IIAVery important
- rs79781594A;GMultiple Endocrine Neoplasia IIAVery important
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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.