Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728319
rs794728319
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. 26621581

2016
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. 26621581

2016
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. 26272055

2015
dbSNP: rs794728319
rs794728319
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. 26272055

2015
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs794728319
rs794728319
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 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: rs794728319
rs794728319
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		C 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: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs794728319
rs794728319
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs794728319
rs794728319
FBN1
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728319
rs794728319
FBN1
CUI: C0002940
Disease: Aneurysm
Aneurysm 		C 0.700 CausalMutation CLINVAR