rs334353
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Age related macular degeneration
0.810
GeneticVariation
GWASDB
Seven new loci associated with age-related macular degeneration.
23455636
2013
rs334353
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
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
rs334353
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Age related macular degeneration
T
0.810
GeneticVariation
GWASCAT
Seven new loci associated with age-related macular degeneration.
23455636
2013
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
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
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
22113417
2012
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
16791849
2006
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
24882528
2014
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
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
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
21522183
2011
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
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
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
T
0.800
CausalMutation
CLINVAR
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
16596670
2006
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs111426349
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
19883511
2009
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
16791849
2006
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
19883511
2009
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
22113417
2012
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
T
0.800
CausalMutation
CLINVAR
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
16596670
2006
rs111854391
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs113605875
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Loeys-Dietz Syndrome, Type 1a
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
21522183
2011