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 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 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 Multiple facial milia in patients with Loeys-Dietz syndrome. 20956634

2011

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 Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006

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