rs137854450
A SNP in the ELANE gene on chromosome 19. Its most notable genotype is C;T: Severe congenital neutropenia, type 1, autosomal dominant
- Gene
- ELANE
- Location
- Chr 19855,574 (GRCh38)
- Highest magnitude
- 8.2Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadSevere congenital neutropenia, type 1, autosomal dominant
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ELANE SNPs
- rs28931611C;TSevere congenital neutropenia, type 1, autosomal dominantVery important
- rs137854448C;TMaybe: Severe congenital neutropenia, type 1, autosomal dominant; see discussionVery important
- rs387906553A;GPossible miscall in Ancestry v2 data; otherwise, severe congenital neutropenia, type 1, autosomal dominantVery important
- rs797045009A;CSevere congenital neutropenia, type 1, autosomal dominantVery important
Notes
From SNPedia
Notes
c.377C>T (p.Ser126Leu)
C;T
see links at rs137854450. Early warning: preliminary statistics as of November 2018 indicate that the Ancestry v2c chip may be prone to false positives for this genotype, however, this needs to be revisited once more data has accumulated.
Source and license
Adapted from rs137854450 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.