rs387906781(C;T)
From SNPedia
| Thoracic aortic aneurysm and dissection mutation |
| Is a | genotype |
| of | rs387906781 |
| Gene | MYLK, MYLK-AS1 |
| Chromosome | 3 |
| Position | 123,620,300 |
| mentioned | by |
| Magnitude | 5.5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5.5 | Thoracic aortic aneurysm and dissection mutation |
| (T;T) | 0 | common in clinvar |
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.
