Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973