Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 25907466

2015
dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 25907466

2015
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. 24161884

2014
dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060

2011
dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 17627385

2007
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 17627385

2007
dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 10464652

1999
dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 10464652

1999
dbSNP: rs397515757
rs397515757
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C0002940
Disease: Aneurysm
Aneurysm 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515757
rs397515757
FBN1
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR