rs28931611
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 19853,019 (GRCh38)
- Highest magnitude
- 8.2Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableBadSevere congenital neutropenia, type 1, autosomal dominant
- T;TGoodcommon in clinvar
On SNPedia: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ELANE SNPs
- 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
- rs797045009A;CSevere congenital neutropenia, type 1, autosomal dominantVery important
Notes
From SNPedia
Notes
c.211T>C (p.Cys71Arg)
C;T
see links at rs28931611
Source and license
Adapted from rs28931611 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.