Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs334353
rs334353
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0242383
Disease:
Age related macular degeneration
0.810 GeneticVariation BEFREE Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort. 31819893 2019
dbSNP: rs334353
rs334353
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0242383
Disease:
Age related macular degeneration
0.810 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs334353
rs334353
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0242383
Disease:
Age related macular degeneration
T 0.810 GeneticVariation GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 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: rs113605875
rs113605875
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 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: rs121918710
rs121918710
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 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: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 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: rs121918712
rs121918712
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 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: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs113605875
rs113605875
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs113605875
rs113605875
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121918710
rs121918710
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121918712
rs121918712
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013