Gene: TGFBR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs111854391
rs111854391
TGFBR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs113605875
rs113605875
TGFBR1
A 0.800 CausalMutation CLINVAR

dbSNP: rs113605875
rs113605875
TGFBR1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918710
rs121918710
TGFBR1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918711
rs121918711
TGFBR1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918712
rs121918712
TGFBR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918713
rs121918713
TGFBR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554701914
rs1554701914
TGFBR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727503470
rs727503470
TGFBR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs113605875
rs113605875
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs121918710
rs121918710
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs121918711
rs121918711
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs121918712
rs121918712
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs121918710
rs121918710
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs121918711
rs121918711
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs121918712
rs121918712
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs113605875
rs113605875
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121918710
rs121918710
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121918711
rs121918711
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121918712
rs121918712
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015