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: rs780542125
rs780542125
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs780542125
rs780542125
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs780542125
rs780542125
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013