rs137852927

A SNP in the EVC2 gene on chromosome 4. Its most notable genotype is A;G: Carrier of a chondroectodermal dysplasia (EVC) mutation

Gene
EVC2
Location
Chr 45,576,247 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadCarrier of a chondroectodermal dysplasia (EVC) mutationImportant · 3.0

SNPedia records rs137852927 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other EVC2 SNPs

All EVC2 SNPs

Notes

From SNPedia

Notes

aka c.3265C>T (p.Gln1089Ter or Q1089X)

A;G

Unaffected in absence of a second EVC2 gene mutation

Source and license

Adapted from rs137852927 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.