Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 23099432

2012
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007