rs387906553
A SNP in the ELANE gene on chromosome 19. Its most notable genotype is A;G: Possible miscall in Ancestry v2 data; otherwise, severe congenital neutropenia, type 1, autosomal dominant
- Gene
- ELANE
- Location
- Chr 19853,022 (GRCh38)
- Highest magnitude
- 8.2Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadPossible miscall in Ancestry v2 data; otherwise, severe congenital neutropenia, type 1, autosomal dominant
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (G;G). 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
- rs797045009A;CSevere congenital neutropenia, type 1, autosomal dominantVery important
Notes
From SNPedia
Notes
c.214G>A (p.Val72Met); note that while c.214G>A was not observed in ExAC, c.214G>C (p.Val72Leu) was observed once, but it is reported to be a pathogenic mutation.
A;G
see links at rs387906553
Source and license
Adapted from rs387906553 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.