rs797045009
A SNP in the ELANE gene on chromosome 19. Its most notable genotype is A;C: Severe congenital neutropenia, type 1, autosomal dominant
- Gene
- ELANE
- Location
- Chr 19855,758 (GRCh38)
- Highest magnitude
- 8.2Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadSevere congenital neutropenia, type 1, autosomal dominant
- C;CGoodcommon in clinvar
On SNPedia: (A;C), (C;C). 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
- rs137854450C;TSevere congenital neutropenia, type 1, autosomal dominantVery important
- rs387906553A;GPossible miscall in Ancestry v2 data; otherwise, severe congenital neutropenia, type 1, autosomal dominantVery important
Notes
From SNPedia
Notes
c.561C>A (p.Cys187Ter)
A;C
see links at rs797045009
Source and license
Adapted from rs797045009 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.