Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1. 15371449

2004
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. 12161601

2002
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Marfan Database (third edition): new mutations and new routines for the software. 9399842

1998
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987
dbSNP: rs1555395663
rs1555395663
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973