Disease: Aortic aneurysm, familial thoracic 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893807
rs104893807
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893811
rs104893811
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893812
rs104893812
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893813
rs104893813
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104893814
rs104893814
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893815
rs104893815
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893816
rs104893816
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28934568
rs28934568
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104893817
rs104893817
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs104893818
rs104893818
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918715
rs121918715
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553630457
rs1553630457
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		C 0.700 CausalMutation CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185 2017
dbSNP: rs587776770
rs587776770
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs727504292
rs727504292
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs727504421
rs727504421
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863223852
rs863223852
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863224935
rs863224935
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs104893807
rs104893807
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs104893807
rs104893807
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 16251899 2006
dbSNP: rs104893807
rs104893807
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. 21949523 2011
dbSNP: rs104893807
rs104893807
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511 2009
dbSNP: rs104893807
rs104893807
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 20358619 2010