rs137854448(C;T)
Maybe: Severe congenital neutropenia, type 1, autosomal dominant; see discussion
- Magnitude
- 8.2Very important
- Repute
- Bad
- On SNPedia
- rs137854448(C;T)
- Gene
- ELANE
Other genotypes of rs137854448
Notes
From SNPedia
23andMe appears to overcall this location in individuals who do not have any form of neutropenia, however if you're seeing this in your report you probably weren't tested by 23andMe. Please contact us (info@snpedia.com) if your data indicates you have this genotype and you are willing to indicate if you have any form of neutropenia. Additional discussion at rs137854448.
Source and license
Adapted from rs137854448(C;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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.