Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 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: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 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: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 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: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 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: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		G 0.700 GeneticVariation CLINVAR