rs387906781

A SNP in the MYLK gene on chromosome 3. Its most notable genotype is A;G: Thoracic aortic aneurysm and dissection mutation

Gene
MYLK
Location
Chr 3123,620,300 (GRCh38)
Highest magnitude
5.5Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. A;GMost notableBadThoracic aortic aneurysm and dissection mutationVery important · 5.5
  2. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs387906781 on the minus strand: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other MYLK SNPs

All MYLK SNPs

Notes

From SNPedia

Notes

c.5275T>C (p.Ser1759Pro) Mutations in myosin light chain kinase cause familial aortic dissections

A;G

May not lead to symptoms but is likely to be worth monitoring and alerting family members who may also harbor this mutation. Note that aortic diameter alone is not a reliable marker for evaluating the risk of rupture or dissection in carriers of this mutation. See also MYLK and thoracic aortic aneurysm and dissection.

Source and license

Adapted from rs387906781 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.