Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039551
rs886039551
A 0.700 GeneticVariation CLINVAR Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. 24792536

2014

dbSNP: rs886039551
rs886039551
A 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466

2013

dbSNP: rs886039551
rs886039551
A 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study. 22259224

2012

dbSNP: rs886039551
rs886039551
A 0.700 GeneticVariation CLINVAR Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. 22095581

2012

dbSNP: rs886039551
rs886039551
A 0.700 GeneticVariation CLINVAR Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 19006214

2008

dbSNP: rs886039551
rs886039551
A 0.700 GeneticVariation 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: rs886039551
rs886039551
A 0.700 GeneticVariation CLINVAR Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 16251899

2006