Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 19996017

2009

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Multiple facial milia in patients with Loeys-Dietz syndrome. 20956634

2011

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. 22488992

2012

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. 25116393

2014

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006

dbSNP: rs104893816
rs104893816
A 0.700 CausalMutation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638

2010

dbSNP: rs1052480459
rs1052480459
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057521102
rs1057521102
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501023
rs1060501023
A 0.700 CausalMutation CLINVAR Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299

1995

dbSNP: rs1060501036
rs1060501036
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501073
rs1060501073
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501082
rs1060501082
A 0.700 CausalMutation CLINVAR

dbSNP: rs111231312
rs111231312
A 0.700 CausalMutation CLINVAR

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006

dbSNP: rs111401431
rs111401431
A 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: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. 10930463

2000

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001