rs137854448

A SNP in the ELANE gene on chromosome 19. Its most notable genotype is C;T: Maybe: Severe congenital neutropenia, type 1, autosomal dominant; see discussion

Gene
ELANE
Location
Chr 19855,613 (GRCh38)
Highest magnitude
8.2Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadMaybe: Severe congenital neutropenia, type 1, autosomal dominant; see discussionVery important · 8.2

On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other ELANE SNPs

All ELANE SNPs

Notes

From SNPedia

Show notes, about 170 words

rs137854448, also known as c.416C>T, p.Pro139Leu and P139L, represents a rare variant in the ELANE gene on chromosome 19. The rs137854448(T) variant is reported in ClinVar by a single submitter to be a dominant mutation leading to severe congenital neutropenia, type 1. However, we (SNPedia) are now been informed by several Promethease users with 23andMe-based data indicating they carry this mutation, yet, who have no any signs or history of any form of neutropenia. Therefore, at this time it is unclear if this variant really is disease-causing, or, if 23andMe may be prone to mistyping this genotype. 23andMe name: i3002703

C;T

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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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