Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs595244
rs595244
FBN1
T 0.700 GeneticVariation GWASCAT Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. 27418160

2016
dbSNP: rs137854485
rs137854485
FBN1
0.010 GeneticVariation BEFREE In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms. 30485715

2019