rs281865138
A SNP in the EGR2 gene on chromosome 10. Its most notable genotype is C;C: Likely miscall if from Ancestry data; otherwise, congenital hypomyelinating neuropathy mutation
- Gene
- EGR2
- Location
- Chr 1062,813,492 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CMost notableBadLikely miscall if from Ancestry data; otherwise, congenital hypomyelinating neuropathy mutation
- A;CBadCarrier of congenital hypomyelinating neuropathy mutation
- A;AGoodcommon in clinvar
SNPedia records rs281865138 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other EGR2 SNPs
- rs104894159A;GCharcot-Marie-Tooth Disease, type 1Very important
- rs104894161A;GCharcot-Marie-Tooth Disease, type 1Very important
- rs281865137C;TCharcot-Marie-Tooth Disease, type 1Very important
- rs751448371C;TCharcot-Marie-Tooth Disease, type 1Very important
- rs879254278C;TCharcot-Marie-Tooth Disease, type 1Very important
- rs2295814G;Gcommon in complete genomicsTypical
- rs10995315G;Gcommon in complete genomicsTypical
Notes
From SNPedia
Notes
C;C
Seen too often in Ancestry v2 data compared to reported frequency worldwide, so likely to be a miscall in data from Ancestry. If your data is not from Ancestry, let us know.
A;C
Unaffected in absence of a second pathogenic mutation. However, be aware of issue with Ancestry v2 chip over-calling (G;G) homozygotes.
Source and license
Adapted from rs281865138 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.