Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 CausalMutation CLINVAR Genetic testing of 10 patients with features of Loeys-Dietz syndrome. 26877057

2016
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 CausalMutation CLINVAR International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 27879313

2016
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 CausalMutation CLINVAR Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. 26848186

2016
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 19542084

2009
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 CausalMutation CLINVAR Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 19542084

2009
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 CausalMutation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921

2006
dbSNP: rs760079636
rs760079636
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921

2006