Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
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
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
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
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
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
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885

2010
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935

2007
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297

2004
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. 8909500

1996