rs794726665

A SNP in the EVC gene on chromosome 4. Its most notable genotype is T;T: Ellis-van Creveld syndrome

Gene
EVC
Location
Chr 45,793,722 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TBadCarrier for an Ellis-van Creveld mutationImportant · 3.0
  3. T;TMost notableBadEllis-van Creveld syndromeVery important · 7.0

On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other EVC SNPs

All EVC SNPs

Notes

From SNPedia

Notes

rs794726665, also known as c.1886+5G>T, represents a rare variant in the EVC gene location on chromosome 4. The rs794726665(T) mutation, considered pathogenic for Ellis-van Creveld syndrome when inherited recessively, is considered a founder mutation among the Amish and indigenous populations of Western Australia.

G;T

Unaffected in absence of a second mutation in the EVC gene; see discussion at rs794726665.

T;T

see discussion at rs794726665

Source and license

Adapted from rs794726665 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.