Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553631693
rs1553631693
A 0.700 CausalMutation CLINVAR The Loeys-Dietz syndrome: an update for the clinician. 20838339

2010

dbSNP: rs1553631693
rs1553631693
A 0.700 CausalMutation CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618

2008

dbSNP: rs1553631693
rs1553631693
A 0.700 CausalMutation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921

2006

dbSNP: rs1553631693
rs1553631693
A 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006