rs111588631, FBN1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885 2010
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935 2007
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297 2004
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. 8909500 1996
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation CLINVAR