rs397516840, TGFBR2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 GeneticVariation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921 2006
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006